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Matucci-Cerinic C, Attico A, Malattia C, Consolaro A, Rosina S, Breda L, La Bella S, Cattalini M, Ricci F, Conti G, Civino A, Baldini L, Licciardi F, Insalaco A, La Torre F, Pastore S, Filocamo G, Beretta GB, Biscaro F, Miniaci A, Simonini G, Marrani E, Pistorio A, Ruperto N, Volpi S, Caorsi R, Viglizzo G, Gattorno M, REUMAPED. Towards the definition of disease phenotypes in paediatric SAPHO syndrome: a national multicentric study. Rheumatology (Oxford) 2025; 64:3777-3786. [PMID: 39909492 DOI: 10.1093/rheumatology/keaf065] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2024] [Revised: 12/16/2024] [Accepted: 01/09/2025] [Indexed: 02/07/2025] Open
Abstract
OBJECTIVES The objective of this study was to confirm the presence of different disease phenotypes of paediatric SAPHO syndrome (pSAPHO) based on their skin manifestations in a large cohort of Italian patients. METHODS Patients with pSAPHO were enrolled in the Eurofever Registry and the data retrospectively analysed. The patients were categorized according to their skin manifestations into an acne - hidradenitis suppurativa (Acne-HS) group and a palmoplantar pustulosis - psoriasis vulgaris (PPP-PV) group and were compared with patients without skin manifestations (chronic non-bacterial osteomyelitis, CNO). Comparisons of frequencies between groups were performed using the χ2 test or the Fischer's exact test. RESULTS A total of 54 pSAPHO patients with skin manifestations (35 Acne-HS, 19 PPP-PV) were enrolled and compared with 167 patients with chronic recurrent multifocal osteomyelitis (CRMO). In the Acne-HS group, 82.9% were males, in the PPP-PV, 84.2% were females, while in the chronic non-bacterial osteomyelitis (CNO) group, no gender differences were observed (P < 0.0001). The three groups differed significantly with respect to age at disease onset: Acne-HS median 13.3 years, PPP-PV median 10.2 years, CNO median 9.5 years (P = 0.0001). An axial pattern was more frequent in the Acne-HS (91.4%) group and the PPP-PV group (89.4%) compared with in the CNO group (46%) (P < 0.0001). Both the Acne-HS (82.9%) and the PPP-PV (63.2%) groups required a biologic therapy more frequently than the CNO group (36.8%), but patients with Acne-HS presented with a refractory skin disease requiring steroids and other lines of treatment, while PPP-PV responded well to biologics. CONCLUSION Our data have identified two different phenotypes of pSAPHO based on skin manifestations, with different age of onset, gender, and response to treatments. These two groups have peculiar clinical features that differ from those of the CNO group. A new classification encompassing these phenotypes is warranted.
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Affiliation(s)
- Caterina Matucci-Cerinic
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Italy, Genova
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
| | - Anna Attico
- Department of Medical Sciences, Pediatric Section, University Hospital of Ferrara, Ferrara, Italy
| | - Clara Malattia
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Italy, Genova
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
| | - Alessandro Consolaro
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Italy, Genova
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
| | - Silvia Rosina
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
| | - Luciana Breda
- Dipartimento di Pediatria, Università "G. D'Annunzio" di Chieti-Pescara, Chieti, Italy
| | - Saverio La Bella
- Dipartimento di Pediatria, Università "G. D'Annunzio" di Chieti-Pescara, Chieti, Italy
| | - Marco Cattalini
- Clinica Pediatrica, Università degli Studi di Brescia e ASST Spedali Civili, ERN RITA Centre, Brescia, Italy
| | - Francesca Ricci
- Clinica Pediatrica, Università degli Studi di Brescia e ASST Spedali Civili, ERN RITA Centre, Brescia, Italy
| | - Giovanni Conti
- Unità di Nefrologia e Reumatologia Pediatrica, AOU Policlinico G Martino, Messina, Italy
| | - Adele Civino
- Reumatologia e Immunologia Pediatrica, Ospedale Vito Fazzi, Lecce, Italy
| | - Letizia Baldini
- Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Università di Torino, Torino, Italy
| | - Francesco Licciardi
- Divisione di Immunoreumatologia Pediatrica, Regina Margherita Children's Hospital, Torino, Italy
| | - Antonella Insalaco
- Division of Rheumatology, ERN-RITA Center, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
| | - Francesco La Torre
- Servizio di Reumatologia Pediatrica, UOC Pediatria, Ospedale Pediatrico Giovanni XXIII, Università di Bari, Bari, Italy
| | - Serena Pastore
- Department of Pediatrics, Istituto Salute Materno-Infantile, "IRCCS Burlo Garofolo", Trieste, Italy
| | - Giovanni Filocamo
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Reumatologia Pediatrica, Milano, Italy
| | - Gisella Beatrice Beretta
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Reumatologia Pediatrica, Milano, Italy
| | | | - Angela Miniaci
- Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
| | - Gabriele Simonini
- Rheumatology Unit, ERN ReCONNET Center, Meyer Children's Hospital IRCCS, Firenze, Italy
| | - Edoardo Marrani
- Rheumatology Unit, ERN ReCONNET Center, Meyer Children's Hospital IRCCS, Firenze, Italy
| | - Angela Pistorio
- Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
| | - Nicolino Ruperto
- Fondazione IRCCS San Gerardo dei Tintori, Pediatric Rheumatology, Università Milano Bicocca, Dipartimento di Medicina e Chirurgia, Monza, Italy
| | - Stefano Volpi
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Italy, Genova
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
| | - Roberta Caorsi
- Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Italy, Genova
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
| | | | - Marco Gattorno
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy
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Alkhateb O, Ftouni R, Abbas O, Mourad FH. Skin lesions and chest pain in a patient with Crohn's disease. Gut 2025:gutjnl-2025-335547. [PMID: 40413034 DOI: 10.1136/gutjnl-2025-335547] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/15/2025] [Accepted: 05/03/2025] [Indexed: 05/27/2025]
Affiliation(s)
- Ouwais Alkhateb
- Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
| | - Racha Ftouni
- Dermatology, American University of Beirut Medical Center, Beirut, Lebanon
| | - Ossama Abbas
- Dermatology, American University of Beirut Medical Center, Beirut, Lebanon
| | - Fadi H Mourad
- Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
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Tang W, Duan H, Lv X, Zhao H, Wu L, Deng X. Long-term effectiveness of the combination of iguratimod and alendronate in SAPHO syndrome: a prospective cohort study. Rheumatology (Oxford) 2025; 64:2842-2846. [PMID: 39589915 DOI: 10.1093/rheumatology/keae641] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/24/2024] [Revised: 10/31/2024] [Accepted: 11/13/2024] [Indexed: 11/28/2024] Open
Abstract
OBJECTIVE To evaluate the long-term effectiveness of the combination of Iguratimod (IGU) and Alendronate for patients with Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) syndrome. METHODS A prospective cohort study was conducted on patients diagnosed with SAPHO syndrome at Peking University Third Hospital and Beijing Jishuitan Hospital from 2017 to 2024. The initial treatment regimen comprised a combination of IGU and Alendronate. Patients who were followed up for >2 years were included in our study. We collected demographic data, clinical symptoms, recurrence rates, treatment duration and overall response to therapy for all patients. RESULTS Seventeen patients were recruited for our cohort, with a median (IQR) follow-up of 2.91 (2.34) years. The mean treatment duration was 39.10 months. Among patients with osteoarticular involvement (17/17), 35.30% (6/17) achieved complete improvement without any recurrence, 11.76% (2/17) showed partial improvement and 52.94% (9/17) experienced intermittent flares. For patients with skin involvement (11/17), 63.64% (7/11) achieved complete improvement, 27.27% (3/11) had partial improvement and 9.09% (1/11) experienced intermittent recurrence. Notably, 88.26% (15/17) regained complete independence and resumed work, and 94.12% (16/17) experienced alleviation of anxiety and insomnia. By the end of last follow-up, 52.94% (9/17) had ceased treatment after a mean duration of 25.22 months and 22.22% (2/9) of them encountered recurrence. CONCLUSION The combination of IGU and Alendronate as initial treatment may be effective for the long-term management of SAPHO syndrome. ∼41% of the patients could discontinue treatment after more than two years without recurrence.
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Affiliation(s)
- Wangna Tang
- Department of Orthopedics Medicine, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China
| | - Hongji Duan
- Department of Orthopedics Medicine, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China
| | - Xueya Lv
- Department of Orthopedics Medicine, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China
| | - Hong Zhao
- Department of Orthopedics Medicine, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China
| | - Lingge Wu
- Department of Orthopedics Medicine, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China
| | - Xiaoli Deng
- Department of Orthopedics Medicine, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China
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Wang Y, Gu M, Zheng Z, Jiang H, Han L, Huang H, Wu Y, Li C. Therapeutic approaches for SAPHO syndrome from the perspective of pathogenesis: a review of the literature. Front Immunol 2025; 16:1560398. [PMID: 40303415 PMCID: PMC12037609 DOI: 10.3389/fimmu.2025.1560398] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/14/2025] [Accepted: 03/19/2025] [Indexed: 05/02/2025] Open
Abstract
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare autoinflammatory disease characterized by cutaneous manifestations and osteoarticular damage. The pathogenesis of SAPHO syndrome has not yet been elucidated, but studies have shown that the abnormal bone metabolism of patients with SAPHO syndrome is most likely due to localized infections that induce immune disorders in the body. Although no standardized treatment protocols exist, based on existing case studies and data from open studies, we propose that the treatment of SAPHO syndrome can be categorized into three areas according to the symptomatic manifestations of the disease: (1) control of focal infections using antibiotics and tonsillectomy; (2) administration of DMARDs to manage disease progression; and (3) bone remodeling therapy with bisphosphonates to address abnormal bone metabolism. Furthermore, a comprehensive treatment approach tailored to the clinical manifestations of the patient can effectively alleviate symptoms and enhance quality of life.
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Affiliation(s)
- Yunuo Wang
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China
| | - Mengjiao Gu
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China
| | - Zixiang Zheng
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China
| | - Haixu Jiang
- School of Chinese Materia, Beijing University of Chinese Medicine, Beijing, China
| | - Luyao Han
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China
| | - Hanjing Huang
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China
| | - Yuanhao Wu
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, China
| | - Chen Li
- Department of Dermatology, Tianjin Institute of Integrative Dermatology, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, China
- Department of Rheumatology, Fangshan Hospital, Beijing University of Chinese Medicine, Beijing, China
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Alazmi EA, Alqarni GS, Musslem MT, Samargandi R. Spontaneous Clavicular Osteomyelitis Caused by Cutibacterium acnes Treated with Calcium Sulfate Beads. J Orthop Case Rep 2025; 15:27-32. [PMID: 40092233 PMCID: PMC11907152 DOI: 10.13107/jocr.2025.v15.i03.5322] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2024] [Revised: 01/24/2025] [Indexed: 03/19/2025] Open
Abstract
Introduction Osteomyelitis due to Cutibacterium acnes in the clavicle without a history of previous surgery is extremely rare and has been reported in one previous study. In this report, we delve into a case of clavicular osteomyelitis caused by C. acnes without the presence of hardware materials. Case Report We report here a case of a 32-year-old female presented with spontaneous clavicular osteomyelitis due to C. acnes that failed with medical management. The Patient was successfully treated by surgical debridement and calcium sulfate filling that impregnated with local antibiotics. Conclusion This case demonstrates that clavicular osteomyelitis can be caused by C. acnes even without the presence of a device. Therefore, cultures from potential bone infections that yield C. acnes should not be dismissed as contaminants. Combining clinical and laboratory criteria with emerging microbiologic tests may enhance the predictive value of C. acnes diagnostic testing in the future.
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Affiliation(s)
- Essa A Alazmi
- College of Medicine, University of Jeddah, Jeddah, Saudi Arabia
| | | | | | - Ramy Samargandi
- Department of Orthopedic Surgery, College of Medicine, University of Jeddah, Jeddah, Saudi Arabia
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Ferraioli M, Levani J, De Luca R, Matucci-Cerinic C, Gattorno M, Guiducci S, Bellando Randone S, Chimenti MS. What Is New and What Is Next for SAPHO Syndrome Management: A Narrative Review. J Clin Med 2025; 14:1366. [PMID: 40004896 PMCID: PMC11856149 DOI: 10.3390/jcm14041366] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/31/2024] [Revised: 02/11/2025] [Accepted: 02/14/2025] [Indexed: 02/27/2025] Open
Abstract
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease characterized by a sterile inflammatory osteitis and/or arthritis associated with a wide range of dermatological manifestations, such as acne, palmoplantar pustulosis, and psoriasis. This review, providing up-to-date knowledge on this disease, aims at informing researchers and clinicians to help them program future studies in order to improve patients' care. Due to the vast clinical heterogeneity that characterizes this disease, SAPHO syndrome has received various names; among these, chronic recurrent multifocal osteomyelitis represents the most used one. The various nomenclatures in use also reflect different approaches to its management. Indeed, considering the world-wide distribution and the vast onset age (from children to late adulthood), in addition to the multiform clinical presentation, its diagnosis and treatment are often challenging for clinicians. In this review, we provide valuable insights on SAPHO syndrome, delving into its many aspects: epidemiology, pathogenesis, clinical presentation, diagnosis, and classification. Most importantly, this paper addresses the continuously changing treatment panorama of this disease, from established drugs to newly introduced ones. Furthermore, a peculiar focus regards nonpharmacologic approaches, including traditional Chinese medicine, the apheresis technique, and surgery. Similarly, this review also discusses patients' lifestyle, including quality of life. To improve SAPHO syndrome's management, different knowledge gaps should be filled, such as its current epidemiology and pathogenesis. In turn, perfected knowledge in these fields could also advance research in therapy.
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Affiliation(s)
- Mario Ferraioli
- Rheumatology, Immunology and Clinical Allergology Unit, Department of Medicina dei Sistemi, University of Rome Tor Vergata, 00133 Rome, Italy;
| | - Juela Levani
- Division of Rheumatology, Department of Experimental and Clinical Medicine, University of Florence, AOU Careggi, 50121 Florence, Italy; (J.L.); (R.D.L.); (S.G.); (S.B.R.)
| | - Riccardo De Luca
- Division of Rheumatology, Department of Experimental and Clinical Medicine, University of Florence, AOU Careggi, 50121 Florence, Italy; (J.L.); (R.D.L.); (S.G.); (S.B.R.)
| | - Caterina Matucci-Cerinic
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini; DINOGMI, University of Genoa, 16126 Genoa, Italy; (C.M.-C.); (M.G.)
| | - Marco Gattorno
- Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini; DINOGMI, University of Genoa, 16126 Genoa, Italy; (C.M.-C.); (M.G.)
| | - Serena Guiducci
- Division of Rheumatology, Department of Experimental and Clinical Medicine, University of Florence, AOU Careggi, 50121 Florence, Italy; (J.L.); (R.D.L.); (S.G.); (S.B.R.)
| | - Silvia Bellando Randone
- Division of Rheumatology, Department of Experimental and Clinical Medicine, University of Florence, AOU Careggi, 50121 Florence, Italy; (J.L.); (R.D.L.); (S.G.); (S.B.R.)
| | - Maria Sole Chimenti
- Rheumatology, Immunology and Clinical Allergology Unit, Department of Medicina dei Sistemi, University of Rome Tor Vergata, 00133 Rome, Italy;
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Winter E, Dekkers O, Andreasen C, D'Angelo S, Appelman-Dijkstra N, Appenzeller S, Assmann G, Bubbear J, Bulaicon O, Chapurlat R, Choida V, Clunie GPR, Daoussis D, Diekhoff T, Flendrie M, Fogel O, Ghossan R, Girschick H, van Haalen F, Hamdy N, Hauser B, Hedrich C, Helliwell P, Hermann KG, Insalaco A, Jurik AG, Kishimoto M, Lems W, Miettunen P, Muche B, Cañete AN, Palmou-Fontana N, Smit F, Teh J, Verroken C, de Vlam K, Wendling D, Zhou W, Zmierczak HG, Leerling A. Expert consensus recommendations for the diagnosis and treatment of chronic non-bacterial osteitis (CNO) in adults. Ann Rheum Dis 2025; 84:169-187. [PMID: 39919892 DOI: 10.1136/ard-2024-226446] [Citation(s) in RCA: 4] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/19/2024] [Accepted: 11/01/2024] [Indexed: 11/30/2024]
Abstract
BACKGROUND There is considerable practice variation in labelling, diagnosis and treatment of adults with sterile bone inflammation. We developed a expert consensus recommendations on the disease definition, diagnosis and treatment of this rare condition. METHODS Systematic literature review and Grading of Recommendations, Assessment, Development and Evaluations-based appraisal of evidence, two Delphi surveys and three digital and in-person consensus meetings with a multidisciplinary expert panel and patient representatives. RESULTS A consensus disease definition was developed and the term 'chronic non-bacterial osteitis' (CNO) is proposed to describe adults with sterile bone inflammation. For initial imaging evaluation of adults with suspected CNO, the panel recommends MRI or otherwise CT combined with nuclear imaging. Whole-body imaging at initial evaluation can be considered for diagnostic and prognostic purposes. Suggested first-line treatment in adults with active CNO includes nonsteroidal anti-inflammatory drugs/cyclooxygenase 2-inhibitors. Second-line treatment preferably consists of intravenous bisphosphonates, and otherwise tumour necrosis factor-α inhibitors. Choice between them should be individualised, considering the presence of additional inflammatory features. The panel further discusses outcome measures, follow-up and management of adverse events and complications. CONCLUSIONS AND FUTURE PERSPECTIVES These expert consensus recommendations are intended to support healthcare professionals worldwide in their care for adults with CNO. They also lay the groundwork for establishing international patient registries, translational research lines and multicentre trials, all of which are urgently required.
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Affiliation(s)
- Elizabeth Winter
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands.
| | - Olaf Dekkers
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
| | - Caroline Andreasen
- Department of Rheumatology and Internal Medicine, Gødstrup Hospital, Herning, Denmark
| | | | - Natasha Appelman-Dijkstra
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
| | - Simone Appenzeller
- Departamento de Clínica Médica. Facultade de Ciências Medicas da UNICAMP, Universidade Estadual de Campinas, Campinas, Brazil
| | - Gunter Assmann
- Department of Rheumatology, Ruhr-Universitat Bochum, Bochum, Germany
| | - Judith Bubbear
- Department of Rheumatology, Royal National Orthopaedic Hospital, London, UK
| | - Oana Bulaicon
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
| | - Roland Chapurlat
- Service de Rheumatologie et Pathologie osseuse, Hopital Edouard Herriot, INSERM UMR 1033 and University of Lyon, Lyon, France
| | - Varvara Choida
- Department of Rheumatology, Homerton Healthcare NHS Foundation Trust, London, UK; University College London, London, UK
| | - Gavin P R Clunie
- Department of Rheumatology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
| | - Dimitrios Daoussis
- Department of Rheumatology, University of Patras Medical School, Patras, Greece
| | - Torsten Diekhoff
- Department of Radiology, Charité Universitätsmedizin Berlin, Berlin, Germany
| | - Marcel Flendrie
- Department of Rheumatology, Sint Maartenskliniek, Nijmegen, The Netherlands
| | - Olivier Fogel
- Department of Rheumatology, Paris Saint Joseph Hospital, Paris, France; Department of Rheumatology, Cochin Hospital, Paris, France. https://twitter.com/FogelOlivier
| | - Roba Ghossan
- Department of Rheumatology, Hospital Cochin, Paris, France
| | - Hermann Girschick
- Department of Pediatrics, Vivantes Klinikum im Friedrichshain, Berlin, Germany
| | - Femke van Haalen
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - Neveen Hamdy
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
| | - Barbara Hauser
- Rheumatic Diseases Unit, Western General Hospital, Edinburgh, UK; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, Western General Hospital, Edinburgh, UK
| | - Christian Hedrich
- Department of Women's and Children's Health, University of Liverpool, Liverpool, UK
| | - Philip Helliwell
- Academic Unit of Musculoskeletal Medicine, University of Leeds, Leeds, UK
| | - Kay Geert Hermann
- Department of Radiology, Charite Universitatsmedizin Berlin, Berlin, Germany
| | - Antonella Insalaco
- Department of Paediatric Rheumatology, Ospedale Pediatrico Bambino Gesu, Roma, Italy
| | - Anne Grethe Jurik
- Department of Radiology, Aarhus University Hospital, Aarhus, Denmark
| | - Mitsumasa Kishimoto
- Department of Nephrology and Rheumatology, Kyorin University, Mitaka, Tokyo, Japan
| | - Willem Lems
- Department of Rheumatology, Amsterdam University Medical Centres, Amsterdam, The Netherlands
| | - Paivi Miettunen
- Department of Paediatrics, University of Calgary McCaig Institute for Bone and Joint Health, Calgary, Alberta, Canada
| | - Burkhard Muche
- Department of Rheumatology, Charite Universitatsmedizin Berlin, Berlin, Germany
| | - Ana Navas Cañete
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands
| | - Natalia Palmou-Fontana
- Department of Rheumatology and Pediatric Rheumatology, Immunology Group, Hospital Universitario Marques de Valdecilla, Santander, Cantabria, Spain
| | - Frits Smit
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Radiology, Division of Nuclear Medicine, Leiden University Medical Center, Leiden, The Netherlands; Department of Nuclear Medicine, Alrijne Hospital Location Leiderdorp, Leiderdorp, The Netherlands
| | - James Teh
- Department of Radiology, Nuffield Orthopaedic Centre Girdlestone Memorial Library, Oxford, UK
| | - Charlotte Verroken
- Department of Endocrinology, Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University, Gent, Belgium
| | - Kurt de Vlam
- Department of Rheumatology, Universitaire Ziekenhuizen Leuven, Leuven, Belgium
| | - Daniel Wendling
- Department of Rheumatology, Universite de Franche-Comte, Besancon, France
| | - Wei Zhou
- Department of Rheumatology, Beijing Tiantan Hospital, Beijing, China
| | - Hans-Georg Zmierczak
- Department of Endocrinology, Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University, Gent, Belgium
| | - Anne Leerling
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
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Cai Z, Liu Y, Xue J, He D, Yu M, Yan Q, Sun Y. SAPHO syndrome in the mandible: A 17-patient-based experience. JOURNAL OF STOMATOLOGY, ORAL AND MAXILLOFACIAL SURGERY 2025; 126:102027. [PMID: 39214251 DOI: 10.1016/j.jormas.2024.102027] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/24/2024] [Accepted: 08/28/2024] [Indexed: 09/04/2024]
Abstract
SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome is a rare inflammatory bone disorder with a remarkably low incidence. The condition's impact on the mandible is exceptionally uncommon, often resulting in a high rate of misdiagnosis and an extended duration of illness. The objective of this study was to assess patients with SAPHO syndrome in the mandible in across various stages and to dissect their distinctive features, aiming to provide future clinical experience for the disease. METHODS A retrospective analysis was performed on a cohort of 17 patients diagnosed with SAPHO syndrome affecting the mandible at the Second Affiliated Hospital of Zhejiang University from January 2020 to March 2023. Data including clinical presentations, imaging characteristics, and laboratory results were collected. RESULTS The median age at disease onset was 25, with a diagnostic interval of 26 months. Notably, seven individuals were prepubescent (under the age of 14). Seven patients (41.18 %) exhibited polyostotic involvement, while eight patients (47.06 %) presented with dermatological manifestations either concurrently with or subsequent to the osseous lesions. Condyle involvement was identified in six patients (35.29 %), and bilateral mandibular affection was noted in an equivalent number. The majority of patients (sixteen patients, 94.12 %) reported symptomatic relief following treatment with nonsteroidal anti-inflammatory drugs (NSAIDs). Glucocorticoids were instrumental in managing severe pain and extreme limitations in mouth opening. For patients with refractory disease, tumor necrosis factor-alpha (TNF-α) inhibitors, Janus kinase (JAK) inhibitors and bisphosphonates were employed. Ultimately, effective pain management was achieved in the entire cohort. CONCLUSION The diagnosis of SAPHO syndrome involving the mandible is exclusionary. It is important to improve diagnostic accuracy among oral and maxillofacial surgeons (OMFS), dentists, and rheumatologists to avoid unnecessary surgery and tooth extraction. TNF-α inhibitors, JAK inhibitors and bisphosphonates are recommended as third-line drugs.
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Affiliation(s)
- Zhuoying Cai
- Department of Oral and Maxillofacial Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China.
| | - Yanming Liu
- Department of Oral and Maxillofacial Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China
| | - Jing Xue
- Department of Rheumatology and Immunology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, PR China
| | - Di He
- Department of Oral and Maxillofacial Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China
| | - Menghua Yu
- Department of Oral and Maxillofacial Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China
| | - Qin Yan
- Department of Oral and Maxillofacial Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China
| | - Yihang Sun
- Department of Oral and Maxillofacial Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China
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Verma P, Shukla P, Deswal S, Malhotra KP, Kumar P, Suvirya S. Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome with co-existing ulcerative and superficial granulomatous variants of pyoderma gangrenosum. Indian J Dermatol Venereol Leprol 2025; 0:1-5. [PMID: 39912163 DOI: 10.25259/ijdvl_1093_2024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2024] [Accepted: 10/08/2024] [Indexed: 02/07/2025]
Affiliation(s)
- Priyanka Verma
- Department of Dermatology, Venereology and Leprosy, King George's Medical University, Lucknow, India
| | - Prakriti Shukla
- Department of Dermatology, Venereology and Leprosy, Hind Institute of Medical Sciences, Sitapur Road, India
| | - Satyawati Deswal
- Department of Nuclear Medicine, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India
| | - Kiran Preet Malhotra
- Department of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India
| | - Puneet Kumar
- Department of Rheumatology, King George's Medical University, Lucknow, India
| | - Swastika Suvirya
- Department of Dermatology, Venereology and Leprosy, King George's Medical University, Lucknow, India
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10
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Haşlak F, Akay N, Gül Ü, Günalp A, Könte EK, Şahin S, Kasapçopur Ö. Autoinflammatory Bone Diseases. Balkan Med J 2025; 42:5-13. [PMID: 39757386 PMCID: PMC11725671 DOI: 10.4274/balkanmedj.galenos.2024.2024-11-129] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2024] [Accepted: 12/06/2024] [Indexed: 01/07/2025] Open
Abstract
Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination. The most common and representative AIBD is chronic non-bacterial osteomyelitis (CNO), which is also known as chronic recurrent multifocal osteomyelitis. Another variant of CNO, which is typically observed in older teenagers or adults, is known as synovitis, acne, hyperostosis, pustulosis, osteitis syndrome. This condition is distinguished by its notable skin manifestations. Advancements in genetic research have led to the identification of three novel monogenic subtypes within the category of AIBDs. These include Majeed syndrome, pyogenic arthritis, pyoderma gangrenosum, and acne syndrome, and interleukin-1 receptor antagonist deficiency syndrome. Another monogenic AIBD, called cherubism, affects only the maxilla and mandible. Data on the diagnosis and treatment of these rare diseases are extremely limited. However, if not diagnosed and treated promptly, it can result in significant complications, including severe disability and mortality. Thus, it is imperative to maintain a high level of clinical awareness of these diseases. These rare diagnoses should be considered in patients with musculoskeletal complaints in whom no specific etiology can be identified or in patients with systemic manifestations such as cutaneous and gastrointestinal symptoms or fever. In such patients, the diagnostic process, which encompasses imaging and genetic studies, should be initiated promptly.
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Affiliation(s)
- Fatih Haşlak
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
| | - Nergis Akay
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
| | - Ümit Gül
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
| | - Aybüke Günalp
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
| | - Elif Kılıç Könte
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
| | - Sezgin Şahin
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
| | - Özgür Kasapçopur
- Department of Pediatric Rheumatology İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
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11
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Demirci Yildirim T, Sari İ. SAPHO syndrome: current clinical, diagnostic and treatment approaches. Rheumatol Int 2024; 44:2301-2313. [PMID: 37889264 DOI: 10.1007/s00296-023-05491-3] [Citation(s) in RCA: 13] [Impact Index Per Article: 13.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2023] [Accepted: 10/08/2023] [Indexed: 10/28/2023]
Abstract
This review provides an overview of SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis), a rare autoinflammatory disease that primarily affects bones, skin, and joints. We conducted a search on Medline/PubMed using keywords such as SAPHO syndrome, chronic recurrent multifocal osteitis/osteomyelitis, and related terms. SAPHO syndrome is rare, with a reported frequency of 1 in 10,000 in the Caucasian population. However, the actual incidence of SAPHO syndrome is unknown, and the incidence of the disease is likely higher. The pathogenesis of SAPHO syndrome remains incompletely understood. Current evidence suggests that SAPHO results from a complex interplay between immune dysregulation, genetic susceptibility, and environmental factors. It's not clear if SAPHO syndrome is an autoimmune disease or an autoinflammatory disease, but current evidence suggests that it's more likely an autoinflammatory disease because of things like neutrophil hyperactivity, fewer natural killer (NK) cells, high levels of interleukin (IL)-1, and a good response to treatments that block IL-1. Osteo-articular (OA) involvement is a key clinical feature of SAPHO. It affects the anterior chest wall, axial skeleton, peripheral joints, mandible, long bones of the extremities, and pelvis. Dermatological involvement is a common target in SAPHO, with lesions observed in 60-90% of cases. Common skin lesions include psoriasis and acne, with hidradenitis suppurativa and neutrophilic dermatoses being less commonly seen. Other clinical findings include constitutional symptoms caused by systemic inflammation, such as fever, weight loss, and fatigue. There is no specific laboratory finding for SAPHO syndrome. However, during active disease, there may be an increase in positive acute phase markers, such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), complement levels, mild leukocytosis, and thrombocytosis. Diagnosis is crucial for SAPHO syndrome, which lacks a specific diagnostic finding and is often underrecognized. A comprehensive evaluation of a patient's medical history and physical examination is crucial. Treatment options include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, conventional and synthetic disease-modifying agents (cDMARDs and sDMARDs), biological therapies, bisphosphonates, and antibiotics. Biological treatments have emerged as a viable alternative for SAPHO patients who do not respond to conventional treatments.
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Affiliation(s)
- Tuba Demirci Yildirim
- Department of Rheumatology, Faculty of Medicine, Dokuz Eylul University, Balçova/İzmir, Turkey.
| | - İsmail Sari
- Department of Rheumatology, Faculty of Medicine, Dokuz Eylul University, Balçova/İzmir, Turkey
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12
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Zahid M, Vishwanatham V, Nasir I. Challenges in Diagnosing SAPHO Syndrome: A Multidisciplinary Perspective. Cureus 2024; 16:e71897. [PMID: 39564045 PMCID: PMC11574314 DOI: 10.7759/cureus.71897] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/19/2024] [Indexed: 11/21/2024] Open
Abstract
SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis syndrome) is a systemic inflammatory disease characterized by a combination of both osteoarticular and dermatological manifestations. We encountered an interesting case of a 54-year-old female patient who presented with symptoms of recurrent chest infections. Extensive investigations, including laboratory tests and imaging, were conducted with an initial suspicion of malignancy, but the patient was ultimately diagnosed with SAPHO. Treatment was initiated with a corticosteroid and an immunosuppressant, resulting in mild symptom improvement. This case emphasizes the importance of considering SAPHO syndrome in patients with unexplained musculoskeletal and dermatological symptoms, as early diagnosis and treatment can significantly impact patient outcomes.
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Affiliation(s)
- Maryam Zahid
- General Practice, Coldside Medical Practice, Dundee, GBR
| | | | - Iqra Nasir
- Internal Medicine, Islamic International Medical College, Rawalpindi, PAK
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13
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Leerling AT, Ueckert DA, Van der Giesen FJ, Vliet-Vlieland T, Winter EM. Role of physical therapy in adult chronic non-bacterial osteitis: patients' and therapists' perspectives. Scand J Rheumatol 2024; 53:335-344. [PMID: 38832471 DOI: 10.1080/03009742.2024.2352965] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/08/2024] [Accepted: 05/06/2024] [Indexed: 06/05/2024]
Abstract
OBJECTIVES Chronic nonbacterial osteitis (CNO) is a rare bone disease causing pain and functional impairment. We aimed to explore the application of physical therapy (PT) for adult CNO from the patients' and primary care therapists' perspective. METHOD Cross-sectional study among the Dutch adult CNO cohort (1992-present). A survey on PT-use for axial spondylarthritis was adapted for CNO. Patients using PT in the past 2 years (recent PT-users) were asked about modalities, perceived effects, satisfaction, and preferences for provision. Their current physical therapists were invited to complete a self-developed survey covering therapy details and educational preferences. RESULTS 80/199 invited patients and 14/16 invited therapists completed the survey respectively. 41 (51%) patients used PT for CNO in the preceding 2 years, 14 (18%) used PT >2 years back, and 25 (31%) never used PT. Recent PT-users (n=41) reported diverse treatment modalities, involving massage (61%), joint mobilizations (44%), breathing exercises (49%), muscle strengthening (32%) and counselling through of home-exercises (46%) and pain education (32%). 64% of all patients desired greater emphasis from physicians regarding the role of PT. Most therapists would appreciate referral letters with CNO-specific information (93%), and consultations with specialized therapists (86%). CONCLUSIONS In this study, two-third of adult CNO patients had -ever or recently- used PT, which involved variable therapeutic modalities. Most patients were receptive to a larger role of PT in CNO-management and most therapists preferred CNO-specific information to optimize their care. These findings provide a foundation for the development and systematic evaluation of CNO-specific PT.
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Affiliation(s)
- A T Leerling
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
- Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
| | - D A Ueckert
- Department of Physical Therapy, Leiden University Medical Center, Leiden, The Netherlands
| | - F J Van der Giesen
- Department of Rheumatology, Zuyderland Ziekenhuis, Heerlen, The Netherlands
| | - Tpm Vliet-Vlieland
- Department of Orthopaedics, Rehabilitation and Physical Therapy, Leiden University Medical Center, Leiden, The Netherlands
| | - E M Winter
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
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14
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Mori Y, Izumiyama T, Kanabuchi R, Mori N, Aizawa T. Large language model may assist diagnosis of SAPHO syndrome by bone scintigraphy. Mod Rheumatol 2024; 34:1043-1046. [PMID: 38153762 DOI: 10.1093/mr/road115] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2023] [Revised: 12/14/2023] [Accepted: 12/18/2023] [Indexed: 12/29/2023]
Abstract
OBJECTIVE In this study, we employed a large language model to evaluate the diagnostic efficacy of radiology reports of bone scintigraphy in the context of identifying SAPHO syndrome, and further examined the potential of such a model to augment the diagnostic procedure. METHODS Imaging data and clinical information of 151 patients (105/46 women/men, mean age: 53.5 years) who underwent bone scintigraphy for suspected Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) syndrome between January 2007 and December 2022 were retrospectively reviewed. ChatGPT-4.0 was used as the large language model. The diagnostic performance of the large language model was verified by comparing the cases judged to have SAPHO syndrome that fulfilled Kahn's classification criteria based on a combination of concise radiology reports and skin lesions such as palmoplantar pustulosis, with cases diagnosed with SAPHO syndrome by rheumatologists based on all clinical information. RESULTS The diagnostic accuracy of a large language model for analysing bone scintigraphy radiology reports in conjunction with information about skin symptoms, such as palmoplantar pustulosis, achieved a sensitivity of 83.5%, specificity of 69.4%, and an overall accuracy of 76.8%. CONCLUSION This research indicates the prospective value of extensive language models in scrutinizing radiology accounts from bone scintigraphy for the diagnosis of SAPHO syndrome.
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Affiliation(s)
- Yu Mori
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Takuya Izumiyama
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Ryuichi Kanabuchi
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Naoko Mori
- Department of Radiology, Akita University Graduate School of Medicine, Akita, Akita, Japan
| | - Toshimi Aizawa
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
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15
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Wu G, Wang C, Wang Y. Clinical application of JAK inhibitors in SAPHO syndrome. Int J Rheum Dis 2024; 27:e15231. [PMID: 39082278 DOI: 10.1111/1756-185x.15231] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/25/2023] [Revised: 04/01/2024] [Accepted: 06/06/2024] [Indexed: 08/02/2024]
Affiliation(s)
- Guiying Wu
- Department of Rheumatology and Immunology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
- Inner Mongolia Key Laboratory for Pathogenesis and Diagnosis of Rheumatic and Autoimmune Diseases, Hohhot, China
| | - Cheng Wang
- Department of Rheumatology and Immunology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
- Inner Mongolia Key Laboratory for Pathogenesis and Diagnosis of Rheumatic and Autoimmune Diseases, Hohhot, China
| | - Yong Wang
- Department of Rheumatology and Immunology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
- Inner Mongolia Key Laboratory for Pathogenesis and Diagnosis of Rheumatic and Autoimmune Diseases, Hohhot, China
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16
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Al-Housni O, Alonso JM, Thornburg M, Cancio E. Clinical and Radiological Identification and Management of SAPHO Syndrome. HCA HEALTHCARE JOURNAL OF MEDICINE 2024; 5:449-452. [PMID: 39290474 PMCID: PMC11404590 DOI: 10.36518/2689-0216.1650] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/19/2024]
Abstract
Introduction Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an autoinflammatory disease whose acronymic name stands for the symptoms commonly seen in the disease. These symptoms typically occur simultaneously, in different combinations, in patients during exacerbations of the disease. SAPHO syndrome is a rare disease, most frequently seen in patients aged 30 to 50. It is estimated to be found in 1 in 10 000 persons in White populations, with an even lower incidence seen in non-White populations. Case Presentation A post-menopausal woman with a medical history of SAPHO presented to the emergency department with left foot pain and chest pain with palpitation. She had chronic pustular rashes, located on the bilateral soles of the feet, bilateral palms, neck, and abdomen, which she stated appeared hours after the initial presentation of her pain. Chest X-ray readings showed osteitis and sclerosis of the sternocostoclavicular joint and first rib, a radiological finding of SAPHO syndrome. The patient was successfully treated with nonsteroidal anti-inflammatory drugs for pain relief and IV corticosteroids for the rheumatoid-like inflammatory aspect of SAPHO. Conclusion While SAPHO syndrome is a rare disease, it is important to be aware of its manifestations and symptoms, such as the patient's rash, foot and chest pain, in addition to the dermatological symptoms appearing simultaneously. An early diagnosis can provide patients with accurate and appropriate treatment.
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Affiliation(s)
| | | | - Matthew Thornburg
- Dr Kiran C Patel College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, FL
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17
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Min TT, Choowongkomon K, Htoo HH, Nonejuie P, Haltrich D, Yamabhai M. Anti-CAMP1 IgG promotes macrophage phagocytosis of Cutibacterium acnes type II. Microbiol Res 2024; 285:127749. [PMID: 38761490 DOI: 10.1016/j.micres.2024.127749] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2024] [Revised: 04/28/2024] [Accepted: 05/03/2024] [Indexed: 05/20/2024]
Abstract
Among 5 types of the Christie-Atkins-Munch-Petersen factor (CAMP) of Cutibacterium acnes, CAMP1 is highly expressed in phylotype II as well as IB, and thought to be a virulence factor of opportunistic but fatal blood, soft tissue, and implant-related infections. The target of a human single-chain variable antibody fragment (scFv), recently isolated from a phage display library, has been identified as CAMP1 of phylotype II, using immunoprecipitation followed by mass spectrometry, phage display peptide biopanning, 3D-modelling, and ELISA. The IgG1 format of the antibody could enhance phagocytosis of C. acnes DMST 14916 by THP-1 human monocytes. Our results suggest that the antibody-dependent phagocytosis process is mediated by the caveolae membrane system and involves the induction of IL-1β. This is the first report on the study of a human antibody against CAMP1 of C. acnes phylotype II, of which a potential use as therapeutic antibody against virulence C. acnes infection is postulated.
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Affiliation(s)
- Thae Thae Min
- Molecular Biotechnology Laboratory, School of Biotechnology, Institute of Agricultural Technology, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand
| | - Kiattawee Choowongkomon
- Department of Biochemistry, Faculty of Science, Kasetsart University, Bangkok 10900, Thailand
| | - Htut Htut Htoo
- Institute of Molecular Biosciences, Mahidol University, Salaya, Nakhon Pathom 73170, Thailand
| | - Poochit Nonejuie
- Institute of Molecular Biosciences, Mahidol University, Salaya, Nakhon Pathom 73170, Thailand
| | - Dietmar Haltrich
- Department of Food Sciences and Technology, University of Natural Resources and Life Sciences, Vienna 1190, Austria
| | - Montarop Yamabhai
- Molecular Biotechnology Laboratory, School of Biotechnology, Institute of Agricultural Technology, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand.
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18
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Sun Q, Gu Q, Jiang H, Li W, Lin Z, Li C, Ying Z. Is JAK effective in treating recurrent SAPHO syndrome? TwHF might be a good choice. Medicine (Baltimore) 2024; 103:e38848. [PMID: 39029083 PMCID: PMC11398812 DOI: 10.1097/md.0000000000038848] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2024] [Accepted: 06/17/2024] [Indexed: 07/21/2024] Open
Abstract
BACKGROUND Recently, JAKi has also been widely proved to be an effective alternative to conventional treatment for Synovitis acne pustulosis-hyperostosis-osteitis (SAPHO) cases, after failure of multiple drugs including those described above. But what to do when all these treatments fail? We report a case of remission from Tripterygium wilfordii Hook (TwHF) treatment. METHODS The patient was treated with nonsteroidal anti-inflammatory drugs, oral prednisone, minocycline, bisphosphonate injection, etanercept, and tofacitinib, but the symptoms did not change significantly. Treatment with TwHF (1.0 mg/kg/day, patient weight 60 kg) was started for 24 weeks. RESULTS After 50 months of unsatisfactory treatment, this patient was finally treated with herbal TwHF, and after 6 months of treatment, the patient's magnetic resonance imaging and inflammatory indexes were significantly improved, indicating that the disease had been better controlled. CONCLUSION In this study, TwHF was successful in treating a patient with refractory SAPHO syndrome who was refractory to multiple Western medications without significant adverse effects or toxicities, but further follow-up is needed to determine long-term efficacy. More case reports as well as clinical trials are still needed to confirm whether TwHF can effectively treat refractory SAPHO syndrome.
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Affiliation(s)
- Qiong Sun
- The Second College of Clinical Medicine, Zhejiang Chinese Medical University, Zhejiang 310014, China
- Department of Rheumatology and Immunology, Center for General Practice Medicine, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College), Zhejiang 310014, China
| | - Qinchen Gu
- The Second College of Clinical Medicine, Zhejiang Chinese Medical University, Zhejiang 310014, China
- Department of Rheumatology and Immunology, Center for General Practice Medicine, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College), Zhejiang 310014, China
| | - Haixu Jiang
- School of Chinese Materia, Beijing University of Chinese Medicine, Beijing 102488, China
| | - Weizhong Li
- Department of Rheumatology, Fangshan Hospital, Beijing University of Chinese Medicine, Beijing 102401, China
| | - Zhimin Lin
- Third Affiliated Hospital, Beijing University of Chinese Medicine, Beijing 100700, China
| | - Chen Li
- Department of Rheumatology, Fangshan Hospital, Beijing University of Chinese Medicine, Beijing 102401, China
| | - Zhenhua Ying
- Department of Rheumatology and Immunology, Center for General Practice Medicine, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College), Zhejiang 310014, China
- Institute of Rheumatology and Immunology, Hangzhou Medical College, Zhejiang 310014, China
- Zhejiang Provincial Key Laboratory of Traditional Chinese Medicine Cultivation for Arthritis Diagnosis and Treatment, Zhejiang 310014, China
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19
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Mori Y, Izumiyama T, Okuno H, Watanuki M, Kanabuchi R, Yoshida S, Iwatsu J, Mori N, Aizawa T. Assessment of clinical and radiological characteristics of Japanese patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome. Mod Rheumatol 2024; 34:806-812. [PMID: 37616493 DOI: 10.1093/mr/road086] [Citation(s) in RCA: 5] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/25/2023] [Revised: 07/26/2023] [Accepted: 08/16/2023] [Indexed: 08/26/2023]
Abstract
OBJECTIVE This study aimed to analyse the radiological characteristics and clinical diversity of Japanese patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a heterogeneous disorder. METHODS Radiographs and clinical information from 115 Japanese patients (female/male: 81/34; mean age at onset: 48.7 years) diagnosed with SAPHO syndrome between January 2007 and December 2020 were retrospectively reviewed. Additionally, the treatment for SAPHO syndrome was explored. RESULTS Among the 115 patients, 70 patients had complications, including palmoplantar pustulosis, acne, or psoriasis. Imaging studies included bone scintigraphy, magnetic resonance imaging, computed tomography, and positron emission tomography in 71, 58, 70, and 23 patients, respectively. The most frequent lesions were arthritis and hyperostosis of the sternoclavicular joints in 96 patients; spinal lesions, including sacroiliac arthritis, were observed in 85 patients. Peripheral aseptic osteitis was observed in 22 patients, and the tibia was involved in 12. The treatments consisted of analgesics, bisphosphonates, conventional synthetic disease-modifying antirheumatic drugs, and biologics (tumour necrosis factor inhibitors and interleukin-23p19 inhibitors) in 85, 15, 23, and 10 patients (8 and 2 patients), respectively. CONCLUSIONS Sternoclavicular hyperostosis and pustulosis are frequently observed in patients with SAPHO syndrome. Biological agents were more frequently used in patients with peripheral osteitis and arthritis.
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Affiliation(s)
- Yu Mori
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Takuya Izumiyama
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Hiroshi Okuno
- Department of Orthopaedic Surgery, Tohoku Rosai Hospital, Sendai, Miyagi, Japan
| | - Munenori Watanuki
- Department of Orthopaedic Surgery, JR Sendai Hospital, Sendai, Miyagi, Japan
| | - Ryuichi Kanabuchi
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Shinichiro Yoshida
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Jun Iwatsu
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
| | - Naoko Mori
- Department of Radiology, Akita University Graduate School of Medicine, Akita, Japan
| | - Toshimi Aizawa
- Department of Orthopaedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
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El Harras Y, Imrani K, Setti SES, Moatassim Billah N, Nassar I. The challenging diagnosis of synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A rare case report. SAGE Open Med Case Rep 2024; 12:2050313X241259395. [PMID: 38828378 PMCID: PMC11143798 DOI: 10.1177/2050313x241259395] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/05/2024] [Accepted: 05/14/2024] [Indexed: 06/05/2024] Open
Abstract
Considered rare, the synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a distinct clinical entity, associating skin manifestations and osteoarticular symptoms. Anterior chest wall pain centered at sternoclavicular and sternocostal joints is an important and characteristic clinical finding that can lead to its diagnosis. Radiologists and clinicians must be aware of synovitis-acne-pustulosis-hyperostosis-osteitis syndrome as it can mimic some of the more common disease entities such as Paget's disease. We report the case of a 63-year-old male patient, with no significant medical history, who presented to the dermatology department, with severe palmar and plantar pustulosis associated with polyarthralgia. Computerized tomography scan showed sternoclavicular hyperostosis, in favor of SAPHO syndrome, with regression of clinical symptoms after non-steroidal anti-inflammatory drug treatment.
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Affiliation(s)
- Yahya El Harras
- Radiology Department, Ibn Sina University Hospital, Mohammed V University, Rabat, Morocco
| | - Kaoutar Imrani
- Radiology Department, Ibn Sina University Hospital, Mohammed V University, Rabat, Morocco
| | - Sara ES Setti
- Radiology Department, Ibn Sina University Hospital, Mohammed V University, Rabat, Morocco
| | - Nabil Moatassim Billah
- Radiology Department, Ibn Sina University Hospital, Mohammed V University, Rabat, Morocco
| | - Ittimade Nassar
- Radiology Department, Ibn Sina University Hospital, Mohammed V University, Rabat, Morocco
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21
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Qiu C, Li M, Wu Q, Zhou J, Liu T, Li J, Liu J, Cheng L, Hong Y, Luo D, Yan J, Pan W, Wang Z, Wang Q, Liu X, Wang L. A statistical symptomatic evaluation on SAPHO syndrome from 56 cases of confirmed diagnosis and 352 cases of non-SAPHO involvement. Clin Rheumatol 2024; 43:1763-1775. [PMID: 38446355 DOI: 10.1007/s10067-024-06887-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/10/2023] [Revised: 01/01/2024] [Accepted: 01/23/2024] [Indexed: 03/07/2024]
Abstract
OBJECTIVE To report a statistical evaluation of symptomatology based on 56 cases of SAPHO syndrome and 352 non-SAPHO involvement cases, to propose a symptomatic scoring system in consideration of early warning for SAPHO syndrome. METHODS A cohort comprising 56 subjects diagnosed with SAPHO syndrome was reported, as well as 352 non-SAPHO involvement cases, including their chief complaints, skin manifestations, radiological findings, and laboratory tests. We systematically reviewed previous published five representative huge cohorts from different countries to conclude several specific features of SAPHO by comparing with our case series. The score of each specific index is based on respective incidence and comparison of two cohorts was performed. RESULT In terms of complaint rates, all subjects of two cohorts suffered from osseous pain, which appeared in the anterior chest wall, spine, and limb which were calculated. In respect to dermatological lesions, SAPHO patients suffered from severe acne, and other patients (82.14%) accompanied with palmoplantar pustulosis. Having received radiological examinations, most SAPHO subjects rather than non-SAPHO involvement cases showed abnormal osteoarticular lesions under CT scanning and more detailed information under whole-body bone scintigraphy. Differences also emerged in elevation of inflammation values and rheumatic markers like HLA-B27. Based on our cases and huge cohorts documented, the early warning standard is set to be 5 scores. CONCLUSIONS SAPHO syndrome case series with 56 subjects were reported and an accumulative scoring system for the early reminder on SAPHO syndrome was proposed. The threshold of this system is set to be 5 points. Key Points • Fifty-six patients diagnosed by SAPHO syndrome with detailed symptoms and radiological findings were reported. • Comparison was made between the 56 SAPHO patients and 352 non-SAPHO involvement cases. • An accumulative scoring system for the early reminder on SAPHO syndrome was proposed and the threshold of this system is set to be five points.
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Affiliation(s)
- Cheng Qiu
- Department of Orthopaedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China
- Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, People's Republic of China
| | - Manyu Li
- Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, People's Republic of China
- Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China
| | - Qingrong Wu
- Department of Dermatology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China
| | - Jian Zhou
- Department of Orthopaedics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, People's Republic of China
| | - Tianyi Liu
- Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, People's Republic of China
| | - Jinghang Li
- Department of Orthopaedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China
| | - Jingwei Liu
- Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China
| | - Lin Cheng
- Department of Orthopaedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China
| | - Yu Hong
- Department of Radiology, the First Affiliated Hospital of Shandong First Medical University, Jinan, Shandong, 250014, People's Republic of China
| | - Dan Luo
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, Shandong, 266003, People's Republic of China
| | - Jun Yan
- Department of Orthopaedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China
| | - Wenping Pan
- Department of Rheumatology and Autoimmunology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Medicine and Health Key Laboratory of Rheumatism, Jinan, Shandong, 250014, People's Republic of China
| | - Zhankui Wang
- Department of Rheumatology and Autoimmunology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Medicine and Health Key Laboratory of Rheumatism, Jinan, Shandong, 250014, People's Republic of China.
| | - Qing Wang
- Department of Rheumatology and Autoimmunology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Medicine and Health Key Laboratory of Rheumatism, Jinan, Shandong, 250014, People's Republic of China.
| | - Xinyu Liu
- Department of Orthopaedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China.
| | - Lianlei Wang
- Department of Orthopaedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, People's Republic of China.
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Ferraioli M, Fiannacca L, Greco E, Cela E, Fatica M, Bergamini A, Chimenti MS. Risankizumab Efficacy in Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Remission: A Case Report on Rheumatologic and Dermatologic Disease Manifestations with Literature Review. Case Reports Immunol 2024; 2024:9076852. [PMID: 38533274 PMCID: PMC10965285 DOI: 10.1155/2024/9076852] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2023] [Revised: 02/29/2024] [Accepted: 03/07/2024] [Indexed: 03/28/2024] Open
Abstract
SAPHO syndrome is a complex disease that encompasses both inflammatory arthritis and/or osteitis and dermatologic manifestations. It is considered a rare disease, in fact, no clinical trials have been conducted on its therapy and management. Therefore, therapeutic approach is based on small case studies. Here, we described the case of a 63-year-old woman affected by SAPHO syndrome, treated with the selective IL-23p19 antagonist, Risankizumab, after unsuccessful therapies with Methotrexate, Infliximab, Adalimumab, and an allergic reaction to Secukinumab. At the beginning of therapy, in November 2022, the patient presented with arthritis in both knees associated with palmar pustulosis and guttate psoriasis on the trunk. DAPSA score was 24, PtGA 80 mm, PASI score 11.1, and BSA 40%. Thereafter, Risankizumab was started at the standard dosage of 150 mg. At week 24 patient achieved clinical remission, DAPSA score was 8, PtGA was 30 mm, PASI was 1, and BSA 2.5. Patient maintained clinical remission state at the subsequent week 52 evaluation. At the same time, the patient did not report any adverse effects. Health-related quality of life was also assessed at the same time points aforementioned, showing significant improvement. In conclusion, this case report wants to point out the efficacy and safety of Risankizumab in SAPHO syndrome, reporting a sustained disease remission through a 12 months long follow-up period. We can consider IL-23p19 targeted therapy as a novel treatment option for SAPHO-with a high efficacy potential-especially on patients that have already been treated with other biologics.
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Affiliation(s)
- Mario Ferraioli
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
| | - Luigi Fiannacca
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
| | - Elisabetta Greco
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
| | - Eneida Cela
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
| | - Mauro Fatica
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
| | - Alberto Bergamini
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
| | - Maria Sole Chimenti
- Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy
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23
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Zhang Y, Zheng Z, Gu M, Wu Y, Li C. Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome may present with extra-articular and cutaneous manifestations. Int J Rheum Dis 2024; 27:e15093. [PMID: 38443985 DOI: 10.1111/1756-185x.15093] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2023] [Revised: 02/05/2024] [Accepted: 02/07/2024] [Indexed: 03/07/2024]
Affiliation(s)
- YuRu Zhang
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China
- Tianjin University of Traditional Chinese Medicine, Tianjin, China
| | - ZiXiang Zheng
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China
- Tianjin University of Traditional Chinese Medicine, Tianjin, China
| | - MengJiao Gu
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China
- Tianjin University of Traditional Chinese Medicine, Tianjin, China
| | - YuanHao Wu
- First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China
| | - Chen Li
- Fangshan Hospital, Beijing University of Chinese Medicine, Beijing, China
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24
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Leerling AT, Smit F, Spӓth Z, Cañete AN, de Geus-Oei LF, van de Burgt A, Dekkers OM, van der Bruggen W, Appelman-Dijkstra NM, Vriens D, Winter EM. 18F-Sodium fluoride PET-CT visualizes disease activity in chronic nonbacterial osteitis in adults. JBMR Plus 2024; 8:ziad007. [PMID: 38505528 PMCID: PMC10945721 DOI: 10.1093/jbmrpl/ziad007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/27/2023] [Revised: 11/21/2023] [Accepted: 01/26/2024] [Indexed: 03/21/2024] Open
Abstract
Chronic nonbacterial osteitis (CNO) is a rare disease spectrum, which lacks biomarkers for disease activity. Sodium fluoride-18 positron emission tomography/computed tomography ([18F]NaF-PET/CT) is a sensitive imaging tool for bone diseases and yields quantitative data on bone turnover. We evaluated the capacities of [18F]NaF-PET/CT to provide structural and functional assessment in adult CNO. A coss-sectional study was performed including 43 adult patients with CNO and 16 controls (patients referred for suspected, but not diagnosed with CNO) who underwent [18F]NaF-PET/CT at our expert clinic. Structural features were compared between patients and controls, and maximal standardized uptake values (SUVmax [g/mL]) were calculated for bone lesions, soft tissue/joint lesions, and reference bone. SUVmax was correlated with clinical disease activity in patients. Structural assessment revealed manubrial and costal sclerosis/hyperostosis and calcification of the costoclavicular ligament as typical features associated with CNO. SUVmax of CNO lesions was higher compared with in-patient reference bone (mean paired difference: 11.4; 95% CI: 9.4-13.5; p < .001) and controls (mean difference: 12.4; 95%CI: 9.1-15.8; p < .001). The highest SUVmax values were found in soft tissue and joint areas such as the costoclavicular ligament and manubriosternal joint, and these correlated with erythrocyte sedimentation rate in patients (correlation coefficient: 0.546; p < .002). Our data suggest that [18F]NaF-PET/CT is a promising imaging tool for adult CNO, allowing for detailed structural evaluation of its typical bone, soft-tissue, and joint features. At the same time, [18F]NaF-PET/CT yields quantitative bone remodeling data that represent the pathologically increased bone turnover and the process of new bone formation. Further studies should investigate the application of quantified [18F]NaF uptake as a novel biomarker for disease activity in CNO, and its utility to steer clinical decision making.
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Affiliation(s)
- Anne T Leerling
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
| | - Frits Smit
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Nuclear Medicine, Alrijne Hospital, Leiderdorp, 2353 GA, The Netherlands
| | - Zita Spӓth
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
| | - Ana Navas Cañete
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
| | - Lioe-Fee de Geus-Oei
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Radiation Science and Technology, Delft University of Technology, Delft, 2628 CD, The Netherlands
| | - Alina van de Burgt
- Department of Nuclear Medicine, Alrijne Hospital, Leiderdorp, 2353 GA, The Netherlands
| | - Olaf M Dekkers
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
| | - Wouter van der Bruggen
- Department of Nuclear Medicine, Slingeland Hospital, Doetinchem, 7009 BL, The Netherlands
| | - Natasha M Appelman-Dijkstra
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
| | - Dennis Vriens
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
| | - Elizabeth M Winter
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands
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25
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Ruan DD, Wang RL, Hu YN, Lin X, Luo JW, Yu QH, Wu JB. Clinical and imaging features of six Han patients with SAPHO syndrome. Acta Radiol 2024; 65:211-224. [PMID: 36503262 DOI: 10.1177/02841851221142783] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/17/2024]
Abstract
BACKGROUND Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare autoimmune disease characterized by skin or osteoarticular damage. SAPHO syndrome is often misdiagnosed or missed diagnosis due to lack of overall understanding of the disease by clinicians. PURPOSE To analyze the clinical symptoms and imaging features of six Han patients with SAPHO syndrome in order to provide reference for doctors to diagnose SAPHO syndrome. MATERIAL AND METHODS This study retrospectively analyzed the clinical data of six Han patients with SAPHO syndrome. RESULTS All six Han patients with SAPHO syndrome had severe acne or pustulosis of the hands and feet, and all of them had osteoarticular damage, including five cases involving the sternoclavicular joint. Some patients showed a specific and typical "bull's head" sign on 99mTc-labeled methylene diphosphonate bone imaging. Among the six patients recruited, there was one thoracic vertebra, one cervical vertebra, one sacroiliac joint, and one peripheral joint involvement. Two patients had limited activity due to severe osteoarticular damage. CONCLUSION Due to the atypical clinical symptoms of SAPHO syndrome, most patients will experience a tortuous and long diagnostic process, while a correct understanding and timely intervention of SAPHO syndrome are essential to improve the prognosis of patients.
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Affiliation(s)
- Dan-Dan Ruan
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
| | - Ruo-Li Wang
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
| | - Ya-Nan Hu
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
| | - Xing Lin
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
- Thoracic Surgery Department, Fujian Provincial Hospital, Fuzhou, PR China
| | - Jie-Wei Luo
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
- Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, PR China
| | - Qing-Hua Yu
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
- Radiology Department, Fujian Provincial Hospital, Fuzhou, PR China
| | - Jia-Bin Wu
- Fujian Provincial Hospital, Shengli Clinical Medical College, Fujian Medical University, Fuzhou, PR China
- Nephrology Department, Fujian Provincial Hospital, Fuzhou, PR China
- Fuzhou Second Hospital of Xiamen University, School of Medicine, Xiamen University, Fuzhou, China
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26
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Duan H, Gao S, Zhang L, Song L, Zhai J, Deng X. The clinical characteristics and prognosis of patients with SAPHO syndrome--a real-world cohort study. Clin Rheumatol 2024; 43:561-568. [PMID: 37755548 DOI: 10.1007/s10067-023-06782-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/14/2023] [Revised: 08/22/2023] [Accepted: 09/19/2023] [Indexed: 09/28/2023]
Abstract
OBJECTIVES We aimed to analyze the clinical characteristics and outcomes of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. METHODS The clinical records of 64 patients with SAPHO syndrome were collected, and the treatment and outcomes of 27 patients were followed up. The patients were divided into three groups according to the site of bone lesions: only anterior chest wall (ACW) involvement, only spinal involvement, and bone lesion involvement at both sites. The clinical characteristics and outcomes were compared. The clinical characteristics of the patients with and without peripheral joint involvement were compared. RESULTS Among all patients, 31.25% (20/64) had only ACW involvement, 15.63% (10/64) had only spinal involvement, and 53.12% (34/64) had both ACW and spinal involvement. Peripheral joint involvement was observed in 25.00% (16/64) of the patients. Patients with only spinal involvement were older than those with only ACW involvement (p = 0.006). Patients with both ACW and spinal involvement were older than those with only ACW involvement (p = 0.002) and had a longer diagnosis delay (p = 0.015). Patients with peripheral joint involvement were younger than those without peripheral joint involvement (p = 0.028). During follow-up, 88.89% (24/27) of patients had good outcomes. Twenty-two patients were treated with non-steroidal anti-inflammatory drugs + Iguratimod (IGU), and the outcomes of 90.91% (20/22) improved. CONCLUSIONS A relationship may exist between the sites of bone lesions and clinical characteristics of patients with SAPHO syndrome. The clinical outcomes of these patients may be good, and IGU may be effective in treating SAPHO syndrome. Key Points • This study is the first long-term follow-up on the effectiveness of iguratimod in treating patients with SAPHO. • This study revealed that patients with SAPHO and different bone lesion sites may present with different clinical characteristics.
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Affiliation(s)
- Hongji Duan
- Department of Orthopedic Medicine, Beijing Jishuitan Hospital, Capital Medical University, 31 Xinjiekou East St, Xicheng District, Beijing, 100035, China
| | - Shuang Gao
- Department of Hematology, Lymphoma Center, Peking University Third Hospital, Beijing, China
| | - Lihua Zhang
- Department of Radiology, Peking University Third Hospital, Beijing, China
| | - Le Song
- Department of Nuclear Medicine, Peking University Third Hospital, Beijing, China
| | - Jiayu Zhai
- Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing, China
| | - Xiaoli Deng
- Department of Orthopedic Medicine, Beijing Jishuitan Hospital, Capital Medical University, 31 Xinjiekou East St, Xicheng District, Beijing, 100035, China.
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27
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Awadh NI, Gorial FI, Al-Obaidi AD, Hashim HT, Al-Obaidi MN, Hammadi RA. Unusual cause of inflammatory backache: SAPHO syndrome. Int J Rheum Dis 2024; 27:e14878. [PMID: 37592395 DOI: 10.1111/1756-185x.14878] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/14/2023] [Revised: 07/18/2023] [Accepted: 08/03/2023] [Indexed: 08/19/2023]
Abstract
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) is a rare chronic inflammatory disease that develops in adults. We present a case of SAPHO syndrome in a 37-year-old male presenting with gradually worsening back and neck pain for a 7-year period. The episodes were preceded by a history of pustular skin eruptions, which first appeared on the upper trunk and then involved his face and were pustular and scarring. The purpose of presenting this case report from Iraq is to raise awareness about this rare condition, which is frequently misdiagnosed and under-recognized.
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Affiliation(s)
- Nabaa Ihsan Awadh
- Rheumatology Unit, Department of Internal Medicine, Baghdad Teaching Hospital, Baghdad, Iraq
| | - Faiq I Gorial
- Rheumatology Unit, Department of Medicine, College of Medicine, University of Baghdad, Baghdad, Iraq
| | | | | | | | - Reem Abbas Hammadi
- Rheumatology Unit, Department of Internal Medicine, Baghdad Teaching Hospital, Baghdad, Iraq
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28
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Yen H, Lalor L. Non-syndromic and Syndromic Severe Acne in Adolescent Patients. Med Clin North Am 2024; 108:27-42. [PMID: 37951654 DOI: 10.1016/j.mcna.2023.05.014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2023]
Abstract
Acne is a common skin disorder in adolescents. However, severe acne that is persistent and refractory to conventional treatment or has other associated symptoms should raise suspicion for non-syndromic or syndromic acne.
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Affiliation(s)
- Hsi Yen
- Department of Dermatology, Division of Pediatric Dermatology, Medical College of Wisconsin, 8701 Watertown Plank Road, TBRC 2nd Floor Suite C2010, Milwaukee, WI 53226, USA
| | - Leah Lalor
- Department of Dermatology, Division of Pediatric Dermatology, Medical College of Wisconsin, 8701 Watertown Plank Road, TBRC 2nd Floor Suite C2010, Milwaukee, WI 53226, USA.
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29
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Leerling AT, Andeweg EH, Faber J, Streefland TC, Dekkers OM, Appelman‐Dijkstra NM, Winter EM. Immunological Characterization of Chronic Nonbacterial Osteomyelitis (CNO) in Adults: A Cross-Sectional Exploratory Study. JBMR Plus 2023; 7:e10818. [PMID: 38130757 PMCID: PMC10731106 DOI: 10.1002/jbm4.10818] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2023] [Revised: 08/17/2023] [Accepted: 08/24/2023] [Indexed: 12/23/2023] Open
Abstract
Chronic nonbacterial osteomyelitis (CNO) is a rare disease spectrum affecting children and adults. Adult CNO may occur as isolated bone inflammation, or with a broad range of extraskeletal features. CNO pathophysiology, including the key drivers of inflammation, remains largely unknown. For pediatric CNO, a role for pro-inflammatory cytokine dysregulation has been proposed, but studies in adults are scarce. We therefore provide immunological characterization of adult CNO. Cross-sectional study in our referral center including adult CNO patients (n = 172) and healthy controls (n = 65). Inflammation parameters and systemic inflammatory based scores(SIBS, including neutrophil/lymphocyte ratio [NLR] and systemic immune inflammation index [SII]) were compared between groups. Cytokine expression was explored with electrochemiluminescent immunoassays in 33 patients, eight healthy controls and 21 osteoporosis patients. Routine inflammation markers were higher in patients than in controls, but generally remained within reference range. Systemic inflammation was more pronounced in patients with additional vertebral involvement as compared to those osteitis in the anterior chest wall alone, in patients with comorbid pustulosis palmoplantaris or psoriasis, and in patients with strongly rather than moderately increased lesional uptake on nuclear imaging. SII was elevated in CNO patients too, but NLR was not. Cytokine expression was generally nondifferential between patients and both control groups, and patients displayed low absolute concentrations of pro-inflammatory cytokines. In this adult CNO cohort, systemic inflammation was generally subtle, but more pronounced in patients with vertebral lesions, associated skin disease, and strongly increased uptake on nuclear imaging. SII was increased in patients compared to healthy controls. Contrasting pediatric studies, we found no increased expression of the pro-inflammatory cytokines that have been proposed to drive the inflammatory cascade, like interleukin-6, -8, and -17 (IL-6, IL-8, and IL-17), and tumor necrosis α (TNF-α). Further studies are needed to evaluate the use of SII in diagnosis and monitoring of CNO, and elucidate the role of cytokine dysregulation in adult disease. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC. on behalf of American Society for Bone and Mineral Research.
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Affiliation(s)
- Anne T. Leerling
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
- Center for Bone QualityLeiden University Medical CenterLeidenThe Netherlands
| | - Elisabeth H. Andeweg
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
- Center for Bone QualityLeiden University Medical CenterLeidenThe Netherlands
| | - Juliette Faber
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
- Center for Bone QualityLeiden University Medical CenterLeidenThe Netherlands
| | - Trea C.M. Streefland
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
| | - Olaf M. Dekkers
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
- Department of Clinical EpidemiologyLeiden University Medical CenterLeidenThe Netherlands
| | - Natasha M. Appelman‐Dijkstra
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
- Center for Bone QualityLeiden University Medical CenterLeidenThe Netherlands
| | - Elizabeth M. Winter
- Department of Internal Medicine, Division of EndocrinologyLeiden University Medical CenterLeidenThe Netherlands
- Center for Bone QualityLeiden University Medical CenterLeidenThe Netherlands
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Li Y, Hou X, Liu S, Lu S, Du M, Dong X, Liu X, Li C. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome with cranial bone involvement: Case report and literature review. Int J Rheum Dis 2023; 26:2304-2309. [PMID: 37218535 DOI: 10.1111/1756-185x.14740] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/09/2023] [Revised: 04/26/2023] [Accepted: 05/05/2023] [Indexed: 05/24/2023]
Abstract
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare autoimmune inflammatory disease characterized by osteoarticular and dermatological manifestations. The most common osteoarticular manifestations involve the anterior chest wall, axial skeleton, and long bones. Cranial bone involvement is less reported in SAPHO syndrome. We herein present three cases of SAPHO syndrome with cranial bone involvement, and review the previous literature on similar manifestations. It was revealed that SAPHO syndrome could lead to cranial bone involvement, which could involve the dura mater, leading to hypertrophic pachymeningitis, but the outcome is usually good. Janus kinase inhibitors may be a potential treatment option.
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Affiliation(s)
- Yuan Li
- School of Clinical Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Xiujuan Hou
- Department of Rheumatology, Dongfang Hospital Beijing University of Chinese Medicine, Beijing, China
| | - Shengyan Liu
- School of Clinical Medicine, Peking Union Medical College, Beijing, China
| | - Siyi Lu
- School of Clinical Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Mengmeng Du
- School of Clinical Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Xia Dong
- Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China
| | - Xiaoping Liu
- Department of Rheumatology, Dongfang Hospital Beijing University of Chinese Medicine, Beijing, China
| | - Chen Li
- Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China
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Li C, Wang H, Jiang H, Shao Y, Huang G, Yuan K, Wei S. Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome. Heliyon 2023; 9:e21541. [PMID: 38027688 PMCID: PMC10654150 DOI: 10.1016/j.heliyon.2023.e21541] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2023] [Revised: 10/15/2023] [Accepted: 10/23/2023] [Indexed: 12/01/2023] Open
Abstract
Objective SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome is a heterogeneous disease that clinically manifests as chronic inflammatory osteoarticular and dermatological lesions. Few reports have described familial clustering of SAPHO syndrome cases. This research aimed to illustrate the family aggregation of SAPHO syndrome and investigate the prevalence of autoimmune disorders among SAPHO syndrome patients and first-degree relatives in a large cohort. Methods We retrospectively reviewed the medical records of 233 SAPHO patients diagnosed at Peking Union Medical College Hospital. Direct phone calls were made to each first-degree relatives. All relatives of the patients who reported SAPHO syndrome were asked for a detailed outpatient evaluation. Results A total of 233 patients and 1227 first-degree relatives were recruited. Six (2.6 %) patients had positive SAPHO family history, including four mother-daughter pairs and two sister pairs. Twenty-one (9.0 %) patients presented at least one kind of autoimmune disease, including 12 rheumatoid arthritis and 4 ulcerative colitis cases. Fifty-eight (24.9 %) SAPHO syndrome patients had 68 (5.5 %) first-degree relatives with at least one autoimmune disorder. The palmoplantar pustulosis, psoriasis vulgaris, and rheumatoid arthritis prevalence in our subjects were each higher than reference rates. Conclusion This is the first evaluation of familial aggregation for SAPHO syndrome in a large cohort. SAPHO syndrome has a weak familial aggregation. There is a relatively high prevalence of coexisting autoimmune disease among patients with SAPHO syndrome and their first-degree relatives. These results would prompt physicians to screen SAPHO syndrome patients and their family members for concomitant autoimmune diseases. Keypoints This study suggesting a potential genetic component in the pathogenesis of SAPHO syndrome. This study is the first to evaluate the family aggregation of SAPHO syndrome in a large cohort.
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Affiliation(s)
- Chen Li
- Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China
- Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
| | - Hesong Wang
- School of Life Sciences, Beijing University of Chinese Medicine, Beijing, China
| | - Haixu Jiang
- School of Chinese Materia, Beijing University of Chinese Medicine, Beijing, China
| | - Yuming Shao
- Institute of Clinical Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
| | - Guangrui Huang
- School of Life Sciences, Beijing University of Chinese Medicine, Beijing, China
| | - Kai Yuan
- School of Life Sciences, Beijing University of Chinese Medicine, Beijing, China
| | - Shufeng Wei
- Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China
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Kakimoto T, Tamura T, Koyanagi T, Umeno T, Nishii K, Kuyama S. A case of synovitis-acne-pustulosis-hyperostosis-osteitis syndrome with right pleural effusion. Respir Med Case Rep 2023; 46:101927. [PMID: 37841283 PMCID: PMC10570567 DOI: 10.1016/j.rmcr.2023.101927] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/04/2023] [Accepted: 10/03/2023] [Indexed: 10/17/2023] Open
Abstract
A 79-year-old man presented with fatigue and right shoulder pain. Computed tomography revealed right pleural effusion and osteosclerosis of the sternoclavicular joint. There were no signs of malignancy or infection in the pleural fluid studies. His bone scintigraphy exhibited the "bull's head sign." Despite the absence of skin lesions, he was diagnosed with synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome. Remission was achieved after treatment with non-steroidal anti-inflammatory drugs and oral prednisolone. SAPHO syndrome causes pleural effusion, even in patients without skin lesions. Bone scintigraphy should be considered in the workup for patients with unexplained pleural effusion.
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Affiliation(s)
- Takayuki Kakimoto
- Department of Respiratory Medicine, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan
| | - Tomoki Tamura
- Department of Respiratory Medicine, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan
| | - Taisaku Koyanagi
- Department of Respiratory Medicine, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan
| | - Takahiro Umeno
- Department of Respiratory Medicine, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan
| | - Kazuya Nishii
- Department of Respiratory Medicine, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan
| | - Shoichi Kuyama
- Department of Respiratory Medicine, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Yamaguchi, Japan
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Zhang Y, Luo Y, Ruan Y, Qian X, Feng Z. Relapse of Low Back Pain After Internal Lumbar Fixation Was Diagnosed with SAPHO Syndrome: A Case Report. Int Med Case Rep J 2023; 16:591-598. [PMID: 37789833 PMCID: PMC10542113 DOI: 10.2147/imcrj.s402752] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2023] [Accepted: 04/27/2023] [Indexed: 10/05/2023] Open
Abstract
Introduction Early diagnosis of SAPHO syndrome is easily confused with other common spine-related diseases and infections. There is currently no consensus regarding the diagnosis of SAPHO syndrome, and specific treatments are empirical because of its rarity. Case Presentation A 62-year-old woman was referred to our department with complaints of low back and lower extremity pain for 2 years, 1.5 years after lumbar spine surgery, and recurrent low back pain for 1 year. Laboratory test results revealed elevated hs-CRP levels and erythrocyte sedimentation rate. Combined with her surgical history and lumbar CT results, adjacent segment degeneration (ASD) was first considered. NSAIDs, analgesics, and supplemental therapies were also administered. However, the patient's symptoms were not significantly relieved. During re-examination, hyperkeratosis with active pustulosis was observed on the patient's palms. Osteitis of the left sacroiliac joint was revealed on imaging. Skeletal ECT revealed a typical "horn sign". The patient was diagnosed with SAPHO syndrome. Based on the original treatment, sulfasalazine enteric-coated tablets, adalimumab (a biological agent of TNF-α), pregabalin, and tramadol sustained-release tablets were administered. The patient reported that her pain was significantly relieved. He was discharged from the hospital and received adalimumab treatment (40 mg once per fortnight in the first 6 months and 40 mg once per month after month 6) in the outpatient clinic. The hyperkeratosis with active pustulosis on both palms fully recovered after 12 months of treatment. The patient was followed up 6 months after full recovery, and no recurrence was found in the symptoms of low back and lower extremity pain and palmar hyperkeratosis with active pustulosis. Conclusion SAPHO syndrome should be suspected in patients present with osteoarticular and/or dermatological manifestations. Biological agents can be used to treat patients with refractory SAPHO syndrome.
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Affiliation(s)
- Yanfeng Zhang
- Department of Pain Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310003, People’s Republic of China
| | - Yujia Luo
- Department of Pain Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310003, People’s Republic of China
| | - Yachao Ruan
- Department of Radiology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310003, People’s Republic of China
| | - Xiang Qian
- Stanford University School of Medicine Pain Management Center, Redwood City, CA, 94063, USA
| | - Zhiying Feng
- Department of Pain Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310003, People’s Republic of China
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Leerling AT, Clunie G, Koutrouba E, Dekkers OM, Appelman-Dijkstra NM, Winter EM. Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO). Orphanet J Rare Dis 2023; 18:206. [PMID: 37480122 PMCID: PMC10362746 DOI: 10.1186/s13023-023-02831-1] [Citation(s) in RCA: 15] [Impact Index Per Article: 7.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/23/2023] [Accepted: 07/12/2023] [Indexed: 07/23/2023] Open
Abstract
BACKGROUND Chronic nonbacterial osteomyelitis (CNO) is a rare, and impactful auto-inflammatory bone disease occurring in children and adults. Clinical care for CNO is challenging, as the condition lacks validated classification criteria and evidence-based therapies. This study aimed to map the current diagnostic and therapeutic practices for CNO in adults, as a first step towards a standardized disease definition and future consensus treatment plans. METHODS A primary survey was spread among global rheumatological/bone networks and 57 experts as identified from literature (May 2022), covering terminology, diagnostic tools (clinical, radiological, biochemical) and treatment steps. A secondary survey (sent to primary survey responders in August 2022) further queried key diagnostic features, treatment motivations, disease activity and treatment response monitoring. RESULTS 36 and 23 physicians completed the primary and secondary survey respectively. Diagnosis was mainly based on individual physician assessment, in which the combination of chronic relapsing-remitting bone pain with radiologically-proven osteitis/osteomyelitis, sclerosis, hyperostosis and increased isotope uptake on bone scintigraphy were reported indicative of CNO. Physicians appeared more likely to refer to the condition as synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome in the presence of joint and skin pathology. MRI was most frequently performed, and the preferred diagnostic test for 47%. X-rays were second-most frequently used, although considered least informative of all available tools. Typical imaging features reported were hyperostosis, osteitis, osteosclerosis, bone marrow edema, while degeneration, soft tissue calcification, and ankylosis were not regarded characteristic. Inflammation markers and bone markers were generally regarded unhelpful for diagnostic and monitoring purposes and physicians infrequently performed bone biopsies. Management strategies diverged, including indications for treatment, response monitoring and declaration of remission. Step-1 treatment consisted of non-steroidal anti-inflammatory drugs/COX-2 inhibitors (83%). Common step 2-3 treatments were pamidronate, methotrexate, and TNF-a-inhibition (anti-TNFα), the latter two regarded especially convenient to co-target extra-skeletal inflammation in SAPHO syndrome. Overall pamidronate and anti-TNFα and were considered the most effective treatments. CONCLUSIONS Following from our survey data, adult CNO is a broad and insufficiently characterized disease spectrum, including extra-osseous features. MRI is the favoured imaging diagnostic, and management strategies vary significantly. Overall, pamidronate and anti-TNFα are regarded most successful. The results lay out current practices for adult CNO, which may serve as backbone for a future consensus clinical guideline.
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Affiliation(s)
- A T Leerling
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands
| | - G Clunie
- Department of Rheumatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
| | - E Koutrouba
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands
| | - O M Dekkers
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
- Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands
| | - N M Appelman-Dijkstra
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
- Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands
| | - E M Winter
- Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands.
- Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands.
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Hetrick R, Oliver M. Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity. Front Pediatr 2023; 11:1169659. [PMID: 37342528 PMCID: PMC10277822 DOI: 10.3389/fped.2023.1169659] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/19/2023] [Accepted: 05/17/2023] [Indexed: 06/23/2023] Open
Abstract
Autoinflammatory bone disorders are a group of diseases characterized by sterile osteomyelitis. This includes chronic nonbacterial osteomyelitis and the monogenic forms, Majeed syndrome and deficiency of the interleukin-1 receptor antagonist. These disorders result from innate immune system dysregulation and cytokine imbalance that triggers inflammasome activation causing downstream osteoclastogenesis and excessive bone remodeling. In this review, we will summarize the immunopathogenesis of pediatric autoinflammatory bone diseases with a special focus on the genetics and inborn errors of immunity, while briefly touching on the clinical manifestations and management of each disease as well as areas for future research.
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36
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Sondhi M, Maqsood W, Umer S. Beyond the Acne. Cureus 2023; 15:e40897. [PMID: 37492816 PMCID: PMC10365015 DOI: 10.7759/cureus.40897] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 06/24/2023] [Indexed: 07/27/2023] Open
Abstract
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) is a relatively rare and often underdiagnosed disorder characterized by chronic inflammation affecting the bones, joints, and skin. While the precise cause of SAPHO syndrome remains elusive, multiple factors such as genetics, immunological dysregulation, and bacterial influences have been implicated in its pathogenesis. One notable aspect of SAPHO syndrome is the wide variability of symptoms experienced by afflicted individuals. A diverse array of osteoarticular manifestations may be observed, with common sites of involvement including the anterior chest wall, sacroiliac joints, and peripheral joints. Concurrently, patients often present with various skin disorders, such as palmoplantar pustulosis or acne, further adding to the complexity of the syndrome's clinical presentation. Treatment strategies for SAPHO syndrome primarily focus on managing symptoms and improving the quality of life for affected individuals. Nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, methotrexate (MTX), and tumor necrosis factor (TNF) inhibitors are considered to modulate the immune response and provide relief. One of the challenges encountered in diagnosing SAPHO syndrome is its potential overlap with other related conditions, leading to diagnostic confusion and difficulties. Distinguishing SAPHO syndrome from similar entities can be complex, requiring a comprehensive evaluation of clinical features, imaging studies, and laboratory investigations. We would like to share an intriguing case involving a 28-year-old woman who arrived with perplexing symptoms of pain in her bilateral hands and feet, her lower back, and acne in the bilateral upper arms and thighs. Through a comprehensive workup, the underlying SAPHO syndrome was uncovered, and it was effectively managed using adalimumab.
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Affiliation(s)
- Manush Sondhi
- Internal Medicine, Louisiana State University Health Sciences Center, Shreveport, USA
| | - Warda Maqsood
- Rheumatology, Louisiana State University Health Sciences Center, Shreveport, USA
| | - Sarwat Umer
- Rheumatology, Louisiana State University Health Sciences Center, Shreveport, USA
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Cheng Y, Feng H, Mu J, Chen J, Wu H. Percutaneous vertebroplasty for SAPHO syndrome with vertebral destruction: a case report and literature review. Front Med (Lausanne) 2023; 10:1175787. [PMID: 37228403 PMCID: PMC10203157 DOI: 10.3389/fmed.2023.1175787] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2023] [Accepted: 03/22/2023] [Indexed: 05/27/2023] Open
Abstract
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare musculoskeletal disease characterized by dermatological and osteoarticular lesions. However, SAPHO syndrome is difficult to be diagnosed due to the rarity and complexity. Additionally, there is no standard treatment for SAPHO syndrome based on limited experience. Percutaneous vertebroplasty (PVP) has rarely been reported to treat SAPHO syndrome. We reported a 52-year-old female patient who had a sex-month history of back pain. Palmoplantar pustulosis appeared on the hands and feet. Vertebral destruction was observed on computed tomography (CT) scanning. Laboratory examination showed that erythrocyte sedimentation rate (ESR) and C-reactive protein were elevated. Finally, the patient was diagnosed with SAPHO syndrome and treated with PVP. After the surgery, the back pain was significantly relieved. In this study, we mainly discussed the treatment methods of SAPHO syndrome, and provided a potential treatment for SAPHO syndrome, especially with vertebral destruction, kyphosis, and even pathological fractures.
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Affiliation(s)
- Yuanpei Cheng
- Department of Orthopedics, China-Japan Union Hospital of Jilin University, Changchun, China
| | - Hao Feng
- Department of Orthopedics Trauma and Sports Medicine, The Affiliated Hospital of Hebei University, Baoding, China
| | - Junhan Mu
- Department of Orthopedics, China-Japan Union Hospital of Jilin University, Changchun, China
| | - Jialin Chen
- Department of Orthopedics, China-Japan Union Hospital of Jilin University, Changchun, China
| | - Han Wu
- Department of Orthopedics, China-Japan Union Hospital of Jilin University, Changchun, China
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Leerling AT, Dekkers OM, Appelman-Dijkstra NM, Winter EM. Clinical and therapeutic diversity in adult chronic nonbacterial osteomyelitis (CNO) of the sternocostoclavicular region: a meta-analysis. Rheumatology (Oxford) 2023; 62:512-522. [PMID: 35961032 PMCID: PMC9891421 DOI: 10.1093/rheumatology/keac443] [Citation(s) in RCA: 17] [Impact Index Per Article: 8.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2022] [Revised: 07/14/2022] [Accepted: 07/22/2022] [Indexed: 02/04/2023] Open
Abstract
OBJECTIVES Chronic nonbacterial osteomyelitis (CNO) is a rare inflammatory bone disease. The distinct CNO subtype that affects the anterior chest wall is descriptively named sternocostoclavicular hyperostosis (SCCH) and mainly occurs in adults. Literature on CNO/SCCH is scattered and lacks diagnostic and therapeutic consensus. METHODS Systematic review and meta-analysis aiming to characterize clinical presentation and therapeutic modalities applied in adult CNO/SCCH patients. Untransformed numerical data and double-arcsine transformed proportional data were pooled in a random effects model in R-4.0.5; proportions were reported with 95% CI. RESULTS Forty studies were included, containing data on 2030 and 642 patients for aim 1 and 2, respectively. A female predisposition (67%, 95% CI 60, 73) and major diagnostic delay (5 years 95% CI 3, 7) were noted. Clinical presentation included chest pain (89%, 95% CI 79, 96) and swelling (79%, 95% CI 62, 91). Patients suffered from pustulosis palmoplantaris (53%, 95% CI 37, 68), arthritis (24%, 95% CI 11, 39) and acne (8%, 95% CI 4, 13). Inflammatory markers were inconsistently elevated. Autoantibody and HLA-B27 prevalence was normal, and histopathology unspecific. Increased isotope uptake (99%, 95% CI 96, 100) was a consistent imaging finding. Among manifold treatments, pamidronate and biologicals yielded good response in 83%, 95% CI 60, 98 and 56%, 95% CI 26, 85, respectively. CONCLUSION CNO/SCCH literature proves heterogeneous regarding diagnostics and treatment. Timely diagnosis is challenging and mainly follows from increased isotope uptake on nuclear examination. Biopsies, autoantibodies and HLA status are non-contributory, and biochemical inflammation only variably detected. Based on reported data, bisphosphonates and biologicals seem reasonably effective, but due to limitations in design and heterogeneity between studies the precise magnitude of their effect is uncertain. Fundamentally, international consensus seems imperative to advance clinical care for CNO/SCCH.
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Affiliation(s)
- Anne T Leerling
- Department of Internal Medicine, Division of Endocrinology.,Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - Olaf M Dekkers
- Department of Internal Medicine, Division of Endocrinology
| | - Natasha M Appelman-Dijkstra
- Department of Internal Medicine, Division of Endocrinology.,Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
| | - Elizabeth M Winter
- Department of Internal Medicine, Division of Endocrinology.,Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands
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A Case of SAPHO Syndrome Complicated by Uveitis with Good Response to Both TNF Inhibitor and JAKinib. Case Rep Rheumatol 2023; 2023:6201887. [PMID: 36712597 PMCID: PMC9876693 DOI: 10.1155/2023/6201887] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/08/2022] [Revised: 01/06/2023] [Accepted: 01/09/2023] [Indexed: 01/19/2023] Open
Abstract
Introduction SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge. Case Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated. He had minimal response to conventional DMARDs but showed excellent response to TNF inhibitor (adalimumab). Later, he defaulted treatment and presented with acute anterior uveitis which was also dramatically improved with adalimumab and tofacitinib although financial constraint was always an issue for the patient. Conclusion The uniqueness of this case was that the patient had a multiorgan involvement including osteoarticular system, skin, and eye. Both TNFi (adalimumab) and JAKinib (tofacitinib) had a good response to all organs with a net improvement in the quality of life of this patient.
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40
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Hattori K, Takahashi N, Suzuki M, Kojima T, Imagama S. A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome with isolated lesions of the thoracic spine. Mod Rheumatol Case Rep 2023; 7:243-246. [PMID: 35349712 DOI: 10.1093/mrcr/rxac030] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/09/2021] [Revised: 03/01/2022] [Accepted: 03/25/2022] [Indexed: 01/07/2023]
Abstract
We report a case of isolated lesions of the thoracic spine attributed to synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A 55-year-old woman who suffered from 6 months of back pain had vertebral osteomyelitis on magnetic resonance imaging (MRI). There were no laboratory findings suggestive of infection, malignancy, or autoimmune disease. Radiography, computed tomography (CT), and MRI of the thoracic spine showed mixed lesions of sclerosis and erosion, whereas bone scintigraphy did not show accumulation at any site except the thoracic spine. No lesions in the anterior chest wall or sacroiliac joints were apparent from CT and MRI. No lesions other than at the thoracic spine were observed. As the isolated lesions of the thoracic spine were considered not to have resulted from infection, malignancy, or autoimmune disease, the patient was referred to our department for differential diagnosis. Given that isolated sterile hyperostosis/osteitis among adults is included in the modified diagnostic criteria for SAPHO syndrome, we suspected that the mixed lesions of sclerosis and erosion of the thoracic spine in this case may reflect SAPHO syndrome with chronic non-bacterial osteitis (CNO) of the thoracic spine. Treatment with non-steroidal anti-inflammatory drugs (NSAIDs) was initiated and led to alleviation of her back pain, although the thoracic spine lesions remained on the 6-month MRI. Based on the CNO of the thoracic spine and the rapid response to NSAIDs, the final diagnosis was SAPHO syndrome with isolated lesions of the thoracic spine.
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Affiliation(s)
- Kyosuke Hattori
- Orthopedic Surgery and Rheumatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
| | - Nobunori Takahashi
- Orthopedic Surgery and Rheumatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.,Orthopedic Surgery, Aichi Medical University, Nagakute, Aichi, Japan
| | - Mochihito Suzuki
- Orthopedic Surgery and Rheumatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
| | - Toshihisa Kojima
- Orthopedic Surgery and Rheumatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
| | - Shiro Imagama
- Orthopedic Surgery and Rheumatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
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Adam Z, Šedivá A, Zeman D, Fojtík Z, Petrášová H, Diatková J, Tomíška M, Král Z, Treglerová J, Peřina V, Kamaradová K, Adamová Z, Pour L. Successful treatment of SAPHO syndrome (chronic nonbacterial osteomyelitis and acne) with anakinra and denosumab. Case report and review of therapy. VNITRNI LEKARSTVI 2023; 69:4-14. [PMID: 37827817 DOI: 10.36290/vnl.2023.065] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/14/2023]
Abstract
SAPHO is an acronym derived from capital letters of Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO). SAPHO syndrome is an umbrella term covering a constellation of bone lesions and skin manifestations. A 40-year-old male complained about his jaw and back pain, swelling of multiple joints and weight loss accompanied by physical deterioration and acne type skin lesions. Laboratory tests revealed abnormal elevation of inflammatory markers. Imaging studies illustrated multiple osteolytic bone lesions and paraosseal infiltrates. According to the set of criteria diagnosis of SAPHO syndrome was stated. The patient was treated with glucocorticoids and non-steroidal anti-inflammatory drugs (NSAIDs), but only high dose dexamethasone and prednisone were effective. Daily subcutaneous administration of anakinra at the dose of 100 mg was initiated due to limited response to more classical therapies. Because of planned mandibular osteosynthesis initiation of denosumab was preferred before bisphosphonates. Therapeutic response was confirmed by FDG-PET/MR after 5 months of anakinra and denosumab therapy, showing decreased accumulation of FDG in periosteal and paraosseal infiltrates. Inflammatory markers significantly decreased, bone pain deferred but skin manifestation receded only partially. Therefore the response was evaluated as partial remission.
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Liu S, Wu X, Cao Y, Li Z, Liu Y, Ma M, Li C. Tumor necrosis factor inhibitors for pediatric patients with SAPHO syndrome associated with acne conglobata. Pediatr Rheumatol Online J 2022; 20:88. [PMID: 36224598 PMCID: PMC9555096 DOI: 10.1186/s12969-022-00749-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/22/2022] [Accepted: 09/28/2022] [Indexed: 12/01/2022] Open
Abstract
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare chronic inflammatory disease with osteoarticular and cutaneous involvements as its main manifestations. Acne conglobata as a severe acne form may affect adolescent patients. Tumor necrosis factor inhibitors are usually used as a second-line therapy for refractory SAPHO syndrome and has been reported to treat acne conglobata successfully. We herein report three cases of adolescent patients with SAPHO syndrome associated with acne conglobata who were successfully treated with TNFi therapy.
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Affiliation(s)
- Shengyan Liu
- School of Clinical Medicine, Peking Union Medical College, Beijing, 100730, China
- Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China
| | - Xia Wu
- Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China
| | - Yihan Cao
- Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China
| | - Zhaohui Li
- School of Clinical Medicine, Peking Union Medical College, Beijing, 100730, China
- Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China
| | - Yuchen Liu
- School of Clinical Medicine, Peking Union Medical College, Beijing, 100730, China
- Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China
| | - Mingwei Ma
- School of Clinical Medicine, Peking Union Medical College, Beijing, 100730, China
- Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China
| | - Chen Li
- Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
- Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, 102401, China.
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Nico MAC, Araújo FF, Guimarães JB, da Cruz IAN, Silva FD, Carneiro BC, Filho AGO. Chronic nonbacterial osteomyelitis: the role of whole-body MRI. Insights Imaging 2022; 13:149. [PMID: 36114435 PMCID: PMC9481810 DOI: 10.1186/s13244-022-01288-3] [Citation(s) in RCA: 13] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/11/2022] [Accepted: 08/24/2022] [Indexed: 11/12/2022] Open
Abstract
Background Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis, is a noninfectious autoinflammatory disorder that occurs primarily in children and adolescents and is characterized by episodic musculoskeletal pain with a protracted course. Main body Traditionally, the diagnosis of CNO is made by exclusion and commonly requires bone biopsy to rule out infection and malignancy. However, bone biopsy may be avoided when imaging and clinical characteristic features are present, such as multifocal bone lesions at typical sites, no constitutional symptoms and no signs of infection in laboratory test results. Whole-body magnetic resonance imaging (WB-MRI) can assess signs of acute and chronic inflammation and enables the detection of CNO typical patterns of lesion location and distribution, thereby helping to exclude differential diagnosis. The goal of the present study paper is to review the main clinical and imaging aspects of the disease with emphasis on the role of WB-MRI in the diagnosis, assessment of disease burden and follow-up monitoring. Conclusion Radiologists need to be familiar with the imaging features to suggest the diagnosis as the early therapy may help to avoid irreversible secondary damage of skeletal system.
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Efthimiou P, Petryna O, Nakasato P, Kontzias A. New insights on multigenic autoinflammatory diseases. Ther Adv Musculoskelet Dis 2022; 14:1759720X221117880. [PMID: 36081748 PMCID: PMC9445512 DOI: 10.1177/1759720x221117880] [Citation(s) in RCA: 9] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/22/2021] [Accepted: 07/14/2022] [Indexed: 11/16/2022] Open
Abstract
Autoinflammatory diseases are disorders of the innate immune system, which can be either monogenic due to a specific genetic mutation or complex multigenic due to the involvement of multiple genes. The aim of this review is to explore and summarize the recent advances in pathogenesis, diagnosis, and management of genetically complex autoinflammatory diseases, such as Schnitzler's syndrome; adult-onset Still's disease; synovitis, acne, pustulosis, hyperostosis, osteitis syndrome/chronic recurrent multifocal osteomyelitis/chronic non-bacterial osteomyelitis; Adamantiades-Behçet's disease; Yao syndrome; and periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome. The PubMed database was screened for relevant articles using free text words and specific search strings. The search was limited to English-language articles, reporting the results of studies in humans, published through March 2021. Evidence from literature suggest that these rare multigenic autoinflammatory diseases can present with different clinical features and the diagnosis of these diseases can be challenging due to a combination of nonspecific manifestations that can be seen in a variety of other conditions. Diagnostic delays and disease complications may occur due to low disease awareness and the lack of pathognomonic markers. The pathogeneses of these diseases are complex and in some cases precise pathogenesis is not clearly understood. Conventional treatments are commonly used for the management of these conditions, but biologics have shown promising results. Biologics targeting proinflammatory cytokines including IL-1, IL-6, TNF-α, IL-17A and IL-18 have been shown to ameliorate signs and symptoms of different multigenic autoinflammatory diseases.
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Affiliation(s)
- Petros Efthimiou
- New York Rheumatology Care, Ross University School of Medicine, New York, USA
| | - Olga Petryna
- NYU Grossman School of Medicine, New York, NY, USA
| | | | - Apostolos Kontzias
- Department of Rheumatology, Stony Brook University School of Medicine, Stony Brook, NY, USA
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Genomic and Phenotypic Characterization of Cutibacterium acnes Bacteriophages Isolated from Acne Patients. Antibiotics (Basel) 2022; 11:antibiotics11081041. [PMID: 36009910 PMCID: PMC9404880 DOI: 10.3390/antibiotics11081041] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/11/2022] [Revised: 07/28/2022] [Accepted: 07/28/2022] [Indexed: 11/18/2022] Open
Abstract
Cutibacterium acnes is a pathogen that can cause acne vulgaris, sarcoidosis, endodontic lesions, eye infections, prosthetic joint infections, and prostate cancer. Recently, bacteriophage (phage) therapy has been developed as an alternative to antibiotics. In this study, we attempted to isolate 15 phages specific to C. acnes from 64 clinical samples obtained from patients with acne vulgaris. Furthermore, we sequenced the genomes of these three phages. Bioinformatic analysis revealed that the capsid and tape measure proteins are strongly hydrophobic. To efficiently solubilize the phage particles, we measured the adsorption rate, one-step growth curve, and phage stability using an SMT2 buffer containing Tween 20. Here, we report the genotypic and phenotypic characteristics of the novel C. acnes-specific phages.
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Karagöl C, Tekin ZE, Aydın F, Çelikel E, Kurt T, Tekgöz N, Sezer M, Çelikel Acar B. Let's not forget to ask in treatment-resistant acne: Do you have joint or bone pain? J Paediatr Child Health 2022; 58:1479-1481. [PMID: 35638303 DOI: 10.1111/jpc.16048] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/30/2022] [Revised: 05/05/2022] [Accepted: 05/12/2022] [Indexed: 11/30/2022]
Affiliation(s)
- Cüneyt Karagöl
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
| | - Zahide Ekici Tekin
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
| | - Fatma Aydın
- Division of Pediatric Rheumatology, Department of Pediatrics, Ankara University, Ankara University Hospital, Ankara, Turkey
| | - Elif Çelikel
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
| | - Tuba Kurt
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
| | - Nilüfer Tekgöz
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
| | - Müge Sezer
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
| | - Banu Çelikel Acar
- Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey
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Krout JC, Rees AB, Goldin AN, Moran CP, Graham TB, Lawrenz JM, Halpern JL, Schwartz HS, Holt GE. Chronic Recurrent Multifocal Osteomyelitis: A Review of the Noninfectious Inflammatory Bone Disease and Lessons for More Timely Diagnosis. Orthopedics 2022; 46:e149-e155. [PMID: 35876774 DOI: 10.3928/01477447-20220719-08] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic autoinflammatory disease of the bone that typically occurs in children and adolescents. CRMO is characterized by recurrent periods of exacerbation and remission of symptomatic, osteolytic/sclerotic sterile bone lesions and is often a diagnosis of exclusion. Treatment consists of multimodal anti-inflammatory medication management by rheumatology and rarely involves surgery. This review summarizes the clinical presentation, pathophysiology, diagnosis, and management of this disease and highlights the role of the orthopedic surgeon. With increased familiarity with CRMO, clinicians will be able to diagnose and treat the condition in a more timely manner. [Orthopedics. 202x;4x(x):xx-xx.].
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Barkhodari A, Lee KE, Shen M, Shen B, Yao Q. Inflammatory Bowel Disease: Focus on Enteropathic Arthritis and Therapy. RHEUMATOLOGY AND IMMUNOLOGY RESEARCH 2022; 3:69-76. [PMID: 36465324 PMCID: PMC9524814 DOI: 10.2478/rir-2022-0012] [Citation(s) in RCA: 9] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 04/15/2022] [Accepted: 05/31/2022] [Indexed: 06/17/2023]
Abstract
Inflammatory bowel disease (IBD) is a chronic inflammatory disease primarily affecting the gastrointestinal (GI) tract and other organs. In this article, we provide a comprehensive review of IBD, particularly in the context of enteropathic arthritis and its therapeutic advances. Patients with IBD present with intestinal and extraintestinal manifestations (EIMs). Enteropathic arthritis or arthritis associated with IBD (Crohn's disease [CD] and ulcerative colitis [UC]) is the most common EIM and can involve both peripheral and axial joints with some overlaps. Furthermore, peripheral arthritis can be divided into two subcategories. Due to its varied inflammatory presentations and association with NOD2 mutations, CD can mimic other autoimmune and autoinflammatory diseases. Differential diagnosis should be extended to include another NOD2-associated disease, Yao syndrome. Therapy for IBD entails a myriad of medications and procedures, including various biologics targeting different pathways and Janus kinase (JAK) inhibitors. A better understanding of the therapeutic efficacy and mechanism of each drug aids in proper selection of more effective treatment for IBD and its associated inflammatory arthritis.
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Affiliation(s)
- Amir Barkhodari
- Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA
| | - Kate E. Lee
- Center for Inflammatory Bowel Diseases, New York-Presbyterian/Columbia University Irving Medical Center, New York, NY, USA
| | - Min Shen
- Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing, China
| | - Bo Shen
- Center for Inflammatory Bowel Diseases, New York-Presbyterian/Columbia University Irving Medical Center, New York, NY, USA
| | - Qingping Yao
- Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA
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A case of spondylitis caused by SAPHO syndrome treated with oblique lateral interbody fusion. INTERDISCIPLINARY NEUROSURGERY 2022. [DOI: 10.1016/j.inat.2022.101521] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022] Open
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Hesni S, Khodatars D, Rees R, Khanna M, Walker M. Psoriatic Onycho-Pachydermo-Periostitis. JOURNAL OF PSORIASIS AND PSORIATIC ARTHRITIS 2022; 7:93-98. [PMID: 39296825 PMCID: PMC11361519 DOI: 10.1177/24755303211066089] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/21/2024]
Abstract
Psoriatic onycho-pachydermo-periostitis (POPP) is an unfamiliar and poorly recognised condition first described in 1989 by Fournie et al. It is a variant of psoriatic arthritis comprising the triad of onycholysis, soft tissue thickening and radiographically apparent periostitis. Whilst typically affecting the great toe, any of the digits of the hands and feet may be affected. A 'drumstick' appearance to the digits of the foot is the most common clinical presentation and can be extremely painful. Nail changes are another hallmark of POPP and can be mistakenly diagnosed as fungal infection leading to lengthy periods of incorrect treatment. In this article, we will outline the clinical presentation, imaging features, pathogenesis and treatment options for POPP. Currently, the existence of POPP is not widely known. Awareness of this unusual condition will allow early appropriate treatment and can aid in the diagnosis of indeterminate seronegative disease.
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Affiliation(s)
- Susan Hesni
- Department of Radiology, Imperial College Healthcare NHS Trust, London, UK
| | - Davoud Khodatars
- Department of Radiology, Imperial College Healthcare NHS Trust, London, UK
| | - Richard Rees
- Department of Rheumatology, Imperial College Healthcare NHS Trust, London, UK
| | - Monica Khanna
- Department of Radiology, Imperial College Healthcare NHS Trust, London, UK
| | - Miny Walker
- Department of Radiology, Imperial College Healthcare NHS Trust, London, UK
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