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1
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Ali I, Galili Y, Bernardes T, Carlan S. Hyperphosphatemic Familial Tumoral Calcinosis With a Large Hip Mass. Cureus 2025; 17:e81756. [PMID: 40330379 PMCID: PMC12051714 DOI: 10.7759/cureus.81756] [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: 04/04/2025] [Indexed: 05/08/2025] Open
Abstract
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder that generally presents in the first two decades of life with ectopic calcification throughout the body. The underlying metabolic disorder is caused by a mutation in a gene responsible for regulating fibroblast growth factor 23 (FGF23) activity. Loss of regulation of FGF23 results in hyperphosphatemia resulting in the characteristic tissue calcinosis deposits, especially in periarticular locations. The diagnosis is made with imaging, hyperphosphatemia, and genetic testing. Medical and surgical treatments are recommended to reduce blood phosphate and remove the masses. A 35-year-old male presented with a painful left lateral hip mass that had been gradually enlarging over the past four months. X-rays showed amorphous calcific densities in the left hip consistent with tumoral calcinosis. Magnetic resonance imaging (MRI) noted a stable complex mass in the left posterior hip and ischio-femoral space consistent with tumoral calcinosis. He had an elevated phosphorus level of 6.0 mg/dL (reference range 2.5 to 4.5 mg/dL). Excision of the mass was successful and genetic testing showed a pathogenic variant in polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3), associated with HFTC. He was treated with diet and sevelamer (phosphate binder), and discharged. This case demonstrates that the detection of the disorder can be delayed by the slow progression of clinical symptoms and tumor calcinosis over time. Ultimately, early awareness of the disease and the mechanisms responsible for the tissue damage are important to limit long-term health consequences, which can include calcifications that ulcerate and limit joint motion. As seen in this patient, the condition often requires repeated surgical interventions. Finally, this is an autosomal recessive inherited disorder, so genetic counseling is an important component of comprehensive care.
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Affiliation(s)
- Issa Ali
- Department of Internal Medicine, Cleveland Clinic Florida, Weston, USA
| | - Yehuda Galili
- Department of Oncology and Hematology, Cleveland Clinic Florida, Weston, USA
| | - Teresa Bernardes
- Department of Medicine, Orlando Regional Medical Center, Orlando, USA
| | - Steve Carlan
- Department of Academic Affairs and Research, Orlando Regional Medical Center, Orlando, USA
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2
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Kong M, Walters H, Teh J. Updates in Deposition Arthritis Other Than Gout. Semin Musculoskelet Radiol 2025; 29:275-292. [PMID: 40164083 DOI: 10.1055/s-0045-1802661] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/02/2025]
Abstract
This article focuses on updates in calcium pyrophosphate deposition disease (CPPD) and basic calcium phosphate deposition (BCPD), highlighting recent advances in imaging and the understanding of these conditions. It explores their clinical presentations, crystal formation mechanisms, and diagnostic challenges. CPPD and BCPD are often underrecognized causes of arthritis, and recent imaging diagnostic criteria are presented.
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Affiliation(s)
- Mark Kong
- Oxford University Hospitals NHS Trust, Oxford, United Kingdom
| | - Huw Walters
- Oxford University Hospitals NHS Trust, Oxford, United Kingdom
| | - James Teh
- Radiology Department, Nuffield Orthopaedic Centre, OUH NHS Trust, Headington, Oxford, United Kingdom
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3
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Roux QD, Hua C, Roccaro G, Mongardon N. Necrotizing soft-tissue infection complicating hyperphosphatemic tumoral calcinosis. Ann Dermatol Venereol 2025; 152:103338. [PMID: 39913967 DOI: 10.1016/j.annder.2024.103338] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/21/2024] [Revised: 07/12/2024] [Accepted: 11/25/2024] [Indexed: 03/17/2025]
Affiliation(s)
- Q De Roux
- Service d'anesthésie-réanimation chirurgicale, DMU CARE, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Henri Mondor, F-94010 Créteil, France; Université Paris Est Créteil, Faculté de Santé, F-94010 Créteil, France; U955-IMRB, Equipe 03 "Pharmacologie et Technologies pour les Maladies Cardiovasculaires (PROTECT)", Inserm, Univ Paris Est Créteil (UPEC), Ecole Nationale Vétérinaire d'Alfort (EnVA), F-94700 Maisons-Alfort, France
| | - C Hua
- Service de Dermatologie, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Henri Mondor, F-94010 Créteil, France; Epidemiology in Dermatology and Evaluation of Therapeutics, Université Paris Est Créteil, F-94010 Créteil, France; Groupe Infectiologie Dermatologique-Infections Sexuellement Transmissibles, Société Française de Dermatologie, F-75009, Paris, France
| | - G Roccaro
- Service de chirurgie plastique et reconstructrice, DMU CARE, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Henri Mondor, F-94010 Créteil, France
| | - N Mongardon
- Service d'anesthésie-réanimation chirurgicale, DMU CARE, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Henri Mondor, F-94010 Créteil, France; Université Paris Est Créteil, Faculté de Santé, F-94010 Créteil, France; U955-IMRB, Equipe 03 "Pharmacologie et Technologies pour les Maladies Cardiovasculaires (PROTECT)", Inserm, Univ Paris Est Créteil (UPEC), Ecole Nationale Vétérinaire d'Alfort (EnVA), F-94700 Maisons-Alfort, France.
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4
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Valente F, Riccardi R, Valente P, Del Rosso R, Sbrenna A. Incidental Findings of Muscle-Origin Calcifications in the Sternocleidomastoid Muscle on an Orthopantomogram. Cureus 2025; 17:e80016. [PMID: 40182355 PMCID: PMC11968077 DOI: 10.7759/cureus.80016] [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: 03/04/2025] [Indexed: 04/05/2025] Open
Abstract
Calcifications of muscular origin are rare findings in dental panoramic radiographs and can pose diagnostic challenges if not properly identified. This case report describes the incidental discovery of bilateral calcifications within the sternocleidomastoid (SCM) muscle on a routine dental panoramic radiograph. A comprehensive differential diagnosis was considered, including trauma, inflammation, metabolic disorders, and idiopathic conditions. The absence of systemic disorders or recent trauma supported a diagnosis of dystrophic calcifications of the SCM muscle. This case underscores the importance of evaluating anatomical structures beyond the dental and bony regions in panoramic radiography to avoid misdiagnosis.
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Affiliation(s)
| | | | | | | | - Andrea Sbrenna
- Department of Dentistry, Humanis Dental Center, Perugia, ITA
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Donati S, Palmini G, Aurilia C, Falsetti I, Marini F, Galli G, Zonefrati R, Iantomasi T, Margheriti L, Franchi A, Beltrami G, Masi L, Moro A, Brandi ML. Establishment and Molecular Characterization of a Human Stem Cell Line from a Primary Cell Culture Obtained from an Ectopic Calcified Lesion of a Tumoral Calcinosis Patient Carrying a Novel GALNT3 Mutation. Genes (Basel) 2025; 16:263. [PMID: 40149415 PMCID: PMC11942111 DOI: 10.3390/genes16030263] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/03/2025] [Revised: 02/21/2025] [Accepted: 02/21/2025] [Indexed: 03/29/2025] Open
Abstract
BACKGROUND/OBJECTIVES Tumoral calcinosis (TC) is an extremely rare inherited disease characterized by multilobulated, dense ectopic calcified masses, usually in the periarticular soft tissue regions. In a previous study, we isolated a primary cell line from an ectopic lesion of a TC patient carrying a previously undescribed GALNT3 mutation. Here, we researched whether a stem cell (SC) subpopulation, which may play a critical role in TC progression, could be present within these lesions. METHODS A putative SC subpopulation was initially isolated by the sphere assay (marked as TC1-SC line) and characterized for its stem-like phenotype through several cellular and molecular assays, including colony forming unit assay, immunofluorescence staining for mesenchymal SC (MSC) markers, gene expression analyses for embryonic SC (ESC) marker genes, and multidifferentiation capacity. In addition, a preliminary expression pattern of osteogenesis-related pathways miRNAs and genes were assessed in the TC1-SC by quantitative Real-Time PCR (qPCR). RESULTS These cells were capable of differentiating into both the adipogenic and the osteogenic lineages. Moreover, they showed the presence of the MSC and ESC markers, confirmed respectively by using immunofluorescence and qualitative reverse transcriptase PCR (RT-PCR), and a good rate of clonogenic capacity. Finally, qPCR data revealed a signature of miRNAs (i.e., miR-21, miR-23a-3p, miR-26a, miR-27a-3p, miR-27b-3p, and miR-29b-3p) and osteogenic marker genes (i.e., ALP, RUNX2, COLIA1, OPG, OCN, and CCN2) characteristic for the established TC1-SC line. CONCLUSIONS The establishment of this in vitro cell model system could advance the understanding of mechanisms underlying TC pathogenesis, thereby paving the way for the discovery of new diagnostic and novel gene-targeted therapeutic approaches for TC.
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Affiliation(s)
- Simone Donati
- Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy; (S.D.); (C.A.); (I.F.); (G.G.); (T.I.)
| | - Gaia Palmini
- FirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), 50141 Florence, Italy; (G.P.); (F.M.); (R.Z.)
| | - Cinzia Aurilia
- Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy; (S.D.); (C.A.); (I.F.); (G.G.); (T.I.)
| | - Irene Falsetti
- Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy; (S.D.); (C.A.); (I.F.); (G.G.); (T.I.)
| | - Francesca Marini
- FirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), 50141 Florence, Italy; (G.P.); (F.M.); (R.Z.)
| | - Gianna Galli
- Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy; (S.D.); (C.A.); (I.F.); (G.G.); (T.I.)
| | - Roberto Zonefrati
- FirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), 50141 Florence, Italy; (G.P.); (F.M.); (R.Z.)
| | - Teresa Iantomasi
- Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy; (S.D.); (C.A.); (I.F.); (G.G.); (T.I.)
| | - Lorenzo Margheriti
- Stabilimento Chimico Farmaceutico Militare (SCFM)—Agenzia Industrie Difesa (AID), 50141 Florence, Italy; (L.M.); (A.M.)
| | - Alessandro Franchi
- Department of Translational Research and of New Technologies in Medicine and Surgery, University of Pisa, 56126 Pisa, Italy;
| | - Giovanni Beltrami
- Department of Orthopaedic Oncology and Reconstructive Surgery, Azienda Ospedaliero, Universitaria Careggi, 50134 Firenze, Italy;
| | - Laura Masi
- Metabolic Bone Diseases Unit, University Hospital of Florence, AOU Careggi, 50139 Florence, Italy;
| | - Arcangelo Moro
- Stabilimento Chimico Farmaceutico Militare (SCFM)—Agenzia Industrie Difesa (AID), 50141 Florence, Italy; (L.M.); (A.M.)
| | - Maria Luisa Brandi
- FirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), 50141 Florence, Italy; (G.P.); (F.M.); (R.Z.)
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Kobayashi Y, Inoue T, Motegi H. Tumoral Calcinosis of the Thoracolumbar Spine Associated With Adjacent Segment Degeneration After Lumber Fusion: A Case of Myelopathy. Cureus 2025; 17:e79851. [PMID: 40166507 PMCID: PMC11955284 DOI: 10.7759/cureus.79851] [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: 02/27/2025] [Indexed: 04/02/2025] Open
Abstract
Tumoral calcinosis is characterized by the deposition of calcified masses in peri-articular tissues, typically near joints. Spinal involvement is rare, particularly following adjacent segment degeneration (ASD) after lumbar spinal fusion. We present the case of a 73-year-old female who developed tumoral calcinosis with myelopathy following lumbar fusion surgery. She had previously undergone two lumbar spine surgeries, which resulted in lumbar fusion from L2 to L5. She developed lower back and leg pain, which progressively worsened, eventually leading to bilateral lower limb paralysis, paresthesia, bladder and rectal dysfunction, and gait disturbance. Computed tomography revealed calcified lesions at the T12-L1 segment adjacent to the spinal fusion. Surgical treatment included laminectomy with resection of the calcified lesions for decompression and extended fusion for stabilization. Complete removal of the calcified lesions via a posterior approach was challenging due to its extensive anterior involvement; therefore, partial resection was performed. A white calcified substance was extracted from the lesion, and ultrasound confirmed adequate decompression of the spinal cord. Postoperatively, the patient showed significant neurological improvement, and follow-up imaging showed no progression of the calcified lesion. This case highlights the importance of considering tumoral calcinosis in the differential diagnosis of spinal cord compression following ASD after spinal fusion. Spinal instability due to ASD may contribute to the development of spinal tumoral calcinosis, and surgical decompression and stabilization appear to be effective treatment options.
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Affiliation(s)
- Yu Kobayashi
- Department of Orthopaedic Surgery, Chiba Aoba Municipal Hospital, Chiba, JPN
| | - Takaki Inoue
- Department of Orthopaedic Surgery, Chiba Aoba Municipal Hospital, Chiba, JPN
| | - Hiroyuki Motegi
- Department of Orthopaedic Surgery, Chiba Aoba Municipal Hospital, Chiba, JPN
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Moral Berrio E, Cox Conforme RA, Elías R, De La Flor JC, Rodríguez Tudero C, Sánchez de la Nieta-García MD, Zamora González-Mariño R, Vozmediano Poyatos C. An Unusual Case of Uremic Tumoral Calcinosis with Atypical Manifestation in a Patient on Peritoneal Dialysis: Case Report and Review of the Literature. Med Sci (Basel) 2025; 13:11. [PMID: 39982237 PMCID: PMC11843837 DOI: 10.3390/medsci13010011] [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: 01/03/2025] [Revised: 01/24/2025] [Accepted: 01/25/2025] [Indexed: 02/22/2025] Open
Abstract
BACKGROUND Uremic tumoral calcinosis (UTC) is a rare yet severe complication of chronic kidney disease (CKD), predominantly occurring in patients undergoing renal replacement therapy (RRT). It is characterized by extensive soft tissue calcifications, frequently associated with chronic hyperphosphatemia and disruptions to calcium-phosphorus metabolism. CASE REPORT This report describes a 34-year-old woman with end-stage renal disease (ESRD) secondary to lupus nephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD). She presented with a progressively enlarging calcified mass in the proximal phalanx of the third finger on her right hand, accompanied by functional impairment. Laboratory findings revealed persistent hyperphosphatemia (8.8 mg/dL), elevated parathyroid hormone levels (901 pg/mL), and low vitamin D levels (9 ng/mL), indicating significant disturbances to mineral metabolism. Imaging studies, including X-ray and whole-body 18F-Choline positron emission tomography/computed tomography (PET/CT), confirmed the presence of localized calcifications in the soft tissue of the proximal phalanx of the third finger on her right hand and parathyroid hyperplasia, respectively. Initial management included the optimization of phosphate binders and calcimimetic therapy, with the subsequent intensification of dialysis therapy. Transitioning to automated peritoneal dialysis (APD) with high-volume exchanges resulted in a notable improvement in biochemical parameters and the eventual remission of the calcified mass. CONCLUSION This case underscores the importance of comprehensive management in dialysis patients, including dietary phosphate restriction, the appropriate use of non-calcium-based binders, and tailored dialysis regimens to prevent and treat CKD-related mineral and bone disorders. It also highlights the utility of imaging modalities such as PET/CT in diagnosing UTC and monitoring response to therapy. Further research is needed to elucidate the pathophysiology of UTC and optimize its management in dialysis patients.
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Affiliation(s)
- Esperanza Moral Berrio
- Department of Nephrology, Hospital General Universitario de Ciudad Real, 13005 Ciudad Real, Spain; (E.M.B.); (R.A.C.C.); (M.D.S.d.l.N.-G.); (C.V.P.)
| | - Roger A. Cox Conforme
- Department of Nephrology, Hospital General Universitario de Ciudad Real, 13005 Ciudad Real, Spain; (E.M.B.); (R.A.C.C.); (M.D.S.d.l.N.-G.); (C.V.P.)
| | - Raúl Elías
- Department of Nephrology, Hospital Cayetano Heredia, Lima 15002, Peru;
| | - José C. De La Flor
- Department of Nephrology, Hospital Central Defense Gomez Ulla, 280467 Madrid, Spain
- Faculty of Medicine, Alcala de Henares University, 28805 Madrid, Spain
- Health Sciences Doctoral Program, Faculty of Medicine, Alcala University, 28805 Madrid, Spain
| | - Celia Rodríguez Tudero
- Department of Nephrology, Hospital Universitario de Salamanca, 37007 Salamanca, Spain;
- PhD in Surgery Department, Faculty of Medicine, University of Salamanca, 37007 Salamanca, Spain
| | | | | | - Carmen Vozmediano Poyatos
- Department of Nephrology, Hospital General Universitario de Ciudad Real, 13005 Ciudad Real, Spain; (E.M.B.); (R.A.C.C.); (M.D.S.d.l.N.-G.); (C.V.P.)
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Ayoub E, Youssef B, Badr B, Meriem OI, Najate CIE. Tumoral calcinosis producing peripheral nerve compression of the suprascapular nerve: A case report. Radiol Case Rep 2025; 20:670-673. [PMID: 39583241 PMCID: PMC11585465 DOI: 10.1016/j.radcr.2024.09.111] [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: 06/30/2024] [Revised: 09/16/2024] [Accepted: 09/19/2024] [Indexed: 11/26/2024] Open
Abstract
Tumoral calcinosis is a rare disorder characterized by the deposition of calcium phosphate crystals in periarticular soft tissues, often presenting as asymptomatic masses. However, these calcific masses can occasionally cause significant morbidity by compressing adjacent neurovascular structures. We report a rare case of tumoral calcinosis leading to peripheral nerve compression of the suprascapular nerve in a 55-year-old female. The patient presented with progressive shoulder pain and weakness, significantly affecting her daily activities. Imaging studies, including X-ray, CT, and MRI, revealed large, calcified masses in the scapular region compressing the suprascapular nerve. This case highlights the importance of considering nerve compression in the differential diagnosis of shoulder pain with muscular weakness in tumoral calcinosis. Surgical decompression of the nerve and excision of the calcified masses resulted in significant pain relief and partial recovery of shoulder function. This report underscores the critical role of imaging in the diagnosis and management of tumoral calcinosis and the potential for favorable outcomes with timely surgical intervention.
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Affiliation(s)
- Elhajjami Ayoub
- Department of Radiology, Caddi Ayyad University, Arrazi Hospital, Marrakech University Hospital, Marrakech, Morocco
| | - Bouktib Youssef
- Department of Radiology, Caddi Ayyad University, Arrazi Hospital, Marrakech University Hospital, Marrakech, Morocco
| | - Boutakioute Badr
- Department of Radiology, Caddi Ayyad University, Arrazi Hospital, Marrakech University Hospital, Marrakech, Morocco
| | - Ouali Idrissi Meriem
- Department of Radiology, Caddi Ayyad University, Arrazi Hospital, Marrakech University Hospital, Marrakech, Morocco
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Molla NW. Subcutaneous anterior abdominal wall myositis ossificans. Radiol Case Rep 2025; 20:196-200. [PMID: 39502280 PMCID: PMC11535982 DOI: 10.1016/j.radcr.2024.09.139] [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: 07/20/2024] [Revised: 09/24/2024] [Accepted: 09/25/2024] [Indexed: 11/08/2024] Open
Abstract
The differential diagnosis of abdominal wall lesions is broad and includes Myositis ossificans (MO). MO primarily arises in skeletal muscles, but can also occur around adjacent structures. It typically appears as a soft tissue lesion with peripheral rim of calcification. The Presented case is of 21-year-old woman with a right lower quadrant mass without a history of trauma but with a positive history of excessive exercise. Radiological images were nonspecific, and tissue biopsy showed features consistent with myositis ossificans. Follow up images revealed findings consistent with the histopathological diagnosis. This case highlights the nonspecific Imaging findings of MO in the early stages and that MO early stage can be prolonged.
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10
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Zhong M, Yan SJ, Huang LN. Tumoral calcinosis in a patient with chronic kidney disease: A case report. Asian J Surg 2024:S1015-9584(24)02727-1. [PMID: 39632175 DOI: 10.1016/j.asjsur.2024.11.100] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/16/2024] [Accepted: 11/14/2024] [Indexed: 12/07/2024] Open
Affiliation(s)
- Ming Zhong
- Department of Endocrinology, Clinical Research Center for Metabolic Diseases of Fujian Province, Fujian Key Laboratory of Glycolipid and Bone Mineral Metabolism, Diabetes Research Institute of Fujian Province, Metabolic Diseases Research Institute, the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China; Department of Endocrinology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China
| | - Sun-Jie Yan
- Department of Endocrinology, Clinical Research Center for Metabolic Diseases of Fujian Province, Fujian Key Laboratory of Glycolipid and Bone Mineral Metabolism, Diabetes Research Institute of Fujian Province, Metabolic Diseases Research Institute, the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China; Department of Endocrinology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China
| | - Ling-Ning Huang
- Department of Endocrinology, Clinical Research Center for Metabolic Diseases of Fujian Province, Fujian Key Laboratory of Glycolipid and Bone Mineral Metabolism, Diabetes Research Institute of Fujian Province, Metabolic Diseases Research Institute, the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China; Department of Endocrinology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China.
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11
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Gao R, Hong W, Sun Y, Kang Y. Uremic tumoral calcinosis in the sacrococcygeal vertebrae: A case report. Asian J Surg 2024; 47:4833-4835. [PMID: 38824016 DOI: 10.1016/j.asjsur.2024.05.152] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/17/2024] [Accepted: 05/16/2024] [Indexed: 06/03/2024] Open
Affiliation(s)
- Rangshan Gao
- The Yangzhou School of Clinical Medicine of Dalian Medical University, China
| | - Weishi Hong
- Northern Jiangsu People's Hospital, Clinical Teaching Hospital of Medical School, Nanjing University, Yangzhou, China
| | - Yu Sun
- Northern Jiangsu People's Hospital Affiliated to Yangzhou University, China.
| | - Yulong Kang
- Northern Jiangsu People's Hospital Affiliated to Yangzhou University, China.
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12
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Andriandi, Husnul F, Tirta C. Tumoral calcinosis in chronic renal failure: A case report and literature review. Int J Surg Case Rep 2024; 123:110237. [PMID: 39288483 PMCID: PMC11420456 DOI: 10.1016/j.ijscr.2024.110237] [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: 05/15/2024] [Revised: 08/22/2024] [Accepted: 08/31/2024] [Indexed: 09/19/2024] Open
Abstract
INTRODUCTION AND IMPORTANCE Tumor calcinosis is a rare and benign disorder characterized by calcified periarticular soft tissue masses. It may be idiopathic or caused by a condition known as hyperphosphatemia. There is still no definitive guideline for treating this disease, with excision being one of the primary treatment modalities. CASE PRESENTATION 2 patients with a history of longstanding diabetes and dialysis presented with a painless lump on their right buttock, measuring 18 × 30 cm in the right gluteal region. Laboratory examinations showed a high ureum, creatinine, and serum phosphate. A radiograph revealed opacity on the right hip joint, without involvement of the proximal femur bone. A biopsy confirmed the diagnosis of tumor calcinosis. Both patients were treated with calcium carbonate to control their high serum phosphate levels. Both patients showed excellent tumor control without progression. CLINICAL DISCUSSION Tumoral calcinosis (TC) is an extra-articular benign but aggressive tumor. The precise mechanism of TC remains unknown, which partly explains the lack of established treatment modality. We treat our patients with calcium carbonate to reduce the serum phosphate and treat the tumor without surgery. The treatment yielded a satisfactory clinical result. CONCLUSION This study showed that a secondary TC may be conservatively treated without any surgical excision if we address the underlying problem. But it may not result in a reduction of the tumor's size.
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Affiliation(s)
- Andriandi
- Orthopaedic and Traumatology Department, Faculty of Medicine, Universitas Sumatera Utara/Haji Adam Malik General Hospital, Medan, Indonesia
| | - F Husnul
- Orthopaedic and Traumatology Department, Faculty of Medicine, Universitas Sumatera Utara/Haji Adam Malik General Hospital, Medan, Indonesia
| | - C Tirta
- Orthopaedic and Traumatology Department, Faculty of Medicine, Universitas Sumatera Utara/Haji Adam Malik General Hospital, Medan, Indonesia.
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13
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Perkins A, Desai K, Trotter B, Ward R, Sprowls G, Zreik R, Macmurdo C, Tariske L, Birkemeier K. Unusual radiographic progression of tumoral calcinosis along the anterior cruciate ligament in an adolescent male. Proc AMIA Symp 2024; 38:85-90. [PMID: 39712407 PMCID: PMC11657101 DOI: 10.1080/08998280.2024.2403938] [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: 04/08/2024] [Revised: 08/07/2024] [Accepted: 08/29/2024] [Indexed: 12/24/2024] Open
Abstract
A 13-year-old boy was referred to orthopedic surgery for chronic intermittent pain and swelling of the left knee. Initial imaging was consistent with osteochondritis dissecans of the femoral condyle. Follow-up imaging demonstrated unexpected progression, with a mass extending into the notch, replacing the anterior cruciate ligament, and eroding the femoral and tibial condyles. Subsequent surgical biopsy and resection revealed tumoral calcinosis, with an ultimate diagnosis of autosomal recessive familial tumoral calcinosis. This case report highlights the radiographic appearance and progression of a rare disease in this unusual location and the differential diagnosis.
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Affiliation(s)
- Adiba Perkins
- Texas A&M University, Temple, Texas, USA
- Department of Radiology, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | - Kurren Desai
- Texas A&M University, Temple, Texas, USA
- Department of Radiology, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | - Bradley Trotter
- Texas A&M University, Temple, Texas, USA
- Department of Radiology, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | - Russell Ward
- Texas A&M University, Temple, Texas, USA
- Department of Orthopedic Surgery, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | - Gregory Sprowls
- Texas A&M University, Temple, Texas, USA
- Department of Orthopedic Surgery, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | - Riyam Zreik
- Texas A&M University, Temple, Texas, USA
- Department of Pathology, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | - Colleen Macmurdo
- Texas A&M University, Temple, Texas, USA
- Department of Genetics, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
| | | | - Krista Birkemeier
- Texas A&M University, Temple, Texas, USA
- Department of Radiology, Baylor Scott & White McLane Children’s Medical Center, Temple, Texas, USA
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14
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Cherian KE, Cherian J, Vinodhini D, Paul TV. Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review. Calcif Tissue Int 2024; 115:215-228. [PMID: 38951179 DOI: 10.1007/s00223-024-01247-8] [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: 03/18/2024] [Accepted: 06/15/2024] [Indexed: 07/03/2024]
Abstract
This systematic review was performed to understand better the myriad presentations, various therapeutic options, response to therapy, and its clinical outcomes in hyperphosphatemic tumoral calcinosis (HTC). Full texts were selected according to strict inclusion criteria. All case reports of HTC wherein baseline phosphate was measured, treatment offered was mentioned, and information on follow-up and response to therapy that were available were included. A total of 43 of 188 eligible studies (N = 63 patients) met the inclusion criteria. A list of desired data was extracted and graded for methodological quality. A total of 63 individuals (Males = 33) were included from the 43 eligible case studies. The median age of the patients was 18 (IQR 8-32) years. The most frequently involved sites were the hip/gluteal region (34/63; 53.9%) followed by the elbow/forearm (26/63; 41.2%), and the shoulder (18/63; 28.5%). Three patients had conjunctival calcific deposits. The mean (SD) phosphate was 6.9 (1.1) mg/dL. Among the subjects, 36/63 (57.1%) underwent surgical excision with some form of medical therapy. Two patients underwent only surgical excision (2.1%). One patient was maintained on follow-up (1.6%) and 24/63 (38.1%) patients were treated with medical measures. The median (IQR) follow-up duration was 3 (1-9) years. Regression or reduction in lesion size was reported in 19/63 (30.2%) subjects; 20/63 (31.7%) showed progression, 24/63 (38.1%) had features of stable disease, and mortality was reported in 3 patients (4.7%). We report for the first time a detailed description of the clinical and therapeutic response of HTC. A combination of medical measures aimed at lowering serum phosphate appears to be the cornerstone of treatment, although clinical responses may vary.
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Affiliation(s)
| | | | | | - Thomas Vizhalil Paul
- Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, 632004, India.
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15
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Tefera AT, Ahmed MM, Tareke DG, Adem RY. A very rare case of bone metaplasia of renal cyst: A case report. Int J Surg Case Rep 2024; 122:110083. [PMID: 39068704 PMCID: PMC11562382 DOI: 10.1016/j.ijscr.2024.110083] [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: 02/26/2024] [Revised: 07/17/2024] [Accepted: 07/23/2024] [Indexed: 07/30/2024] Open
Abstract
INTRODUCTION Renal Osseous Metaplasia (OM) is a rare condition in which mature bone forms within the renal parenchyma, typically as focal cortical lesions. Although it is usually considered a spontaneous and less pathologically significant lesion, it has been observed in damaged renal allografts and other urinary tract sites. The case we present involves a native kidney with a simple renal cyst, where histopathological examination post-tumor enucleation revealed OM, emphasizing its noteworthy presence in clinical settings. CASE PRESENTATION A 37-year-old female with a history of cesarean delivery and recent emergency surgery presented with abdominal and left flank pain. Initial ultrasound revealed a 4.2 cm anechoic cyst in the lower pole of the left kidney, which was confirmed by abdominal computed tomography (CT-scan as a well-defined fluid density cyst with a thick calcified wall. Surgical enucleoresection identified a Stoney hard mass with a unilocular cyst, histopathologically diagnosed as a simple renal cyst with metaplastic bone and hematopoietic elements. The patient had an uneventful postoperative course and remained well during the follow-up. DISCUSSION Osseous metaplasia (OM) involves extraskeletal bone formation and is associated with factors such as chronic ischemia and inflammation. While rare in renal pathology, it occurs in native kidneys, damaged renal allografts, and the urinary tract, posing radiological challenges in differentiating it from calcification. Accurate diagnosis requires histopathological examination because of the difficulties in distinguishing OM from calcification on imaging studies. CONCLUSION This case revealed Osseous Metaplasia in a simple cyst of the native kidney, urging vigilance in the diagnosis. While generally benign, its occurrence in damaged renal areas emphasizes its clinical significance, prompting further research. Heightened awareness and thorough examination are crucial for accurate diagnosis and patient management.
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Affiliation(s)
- Alemayehu Tegegne Tefera
- Surgery Department Urology Division, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia
| | - Mensur Mohammed Ahmed
- Surgery Department Urology Division, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
| | - Desalew Gedamu Tareke
- Department of Pathology, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia
| | - Ramzi Yessuf Adem
- Surgery Department Urology Division, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia
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16
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Gonçalves DVC, da Silva LNM, Guimarães JB, da Cruz IAN, Filho AGO. Imaging spectrum of atraumatic muscle disorders: a radiologist's guide. Skeletal Radiol 2024; 53:1449-1464. [PMID: 38520541 DOI: 10.1007/s00256-024-04659-7] [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: 12/06/2023] [Revised: 03/13/2024] [Accepted: 03/13/2024] [Indexed: 03/25/2024]
Abstract
Atraumatic muscle disorders comprise a very wide range of skeletal muscle diseases, including metabolic, inflammatory, autoimmune, infectious, ischemic, and neoplastic involvement of the muscles. Therefore, one must take clinical and laboratory data into consideration to elucidate the differential diagnoses, as well as the distribution of the muscle compromise along the body-whether isolated or distributed along the body in a symmetric or asymmetrical fashion. Assessment of muscular disorders often requires imaging investigation before image-guided biopsy or more invasive procedures; therefore, radiologists should understand the advantages and limitations of imaging methods for proper lesion evaluation and be aware of the imaging features of such disorders, thus contributing to proper decision-making and good patient outcomes. In this review, we propose a systematic approach for the assessment of muscle disorders based on their main imaging presentation, dividing them into patterns that can be easily recognized.
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Affiliation(s)
| | - Lucas N M da Silva
- Department of Musculoskeletal Radiology, Fleury Medicina E Saúde, Sao Paulo, Brazil
| | | | - Isabela A N da Cruz
- Department of Musculoskeletal Radiology, Fleury Medicina E Saúde, Sao Paulo, Brazil
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17
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Fabbriciani G, Colombini A, Messina C, Adami G. Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report. Reumatismo 2024; 76. [PMID: 38916164 DOI: 10.4081/reumatismo.2024.1687] [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: 11/29/2023] [Accepted: 04/02/2024] [Indexed: 06/26/2024] Open
Abstract
In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described. The patient had elbow, pelvis, and lower limb pain and a hard mass in the hip and olecranon regions. Increased levels of inorganic phosphorus (Pi) and C-reactive protein were observed. After treating the patient with conventional drugs, we tested denosumab, which reduced but did not normalize the Pi.
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Affiliation(s)
- G Fabbriciani
- Complex Operative Unit of Medicine, Hospital of Asissi-USL Umbria 1, Assisi.
| | - A Colombini
- Laboratory of Applied Biotechnology in Orthopedics, IRCCS Galeazzi Orthopedic Institute, Milan.
| | - C Messina
- IRCCS Galeazzi Orthopedic Institute, Milan; Department of Biomedical Sciences for Health, University of Milan.
| | - G Adami
- Rheumatology Unit, Integrated University Hospital of Verona, University of Verona.
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18
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Gonte MR, Brooks C, Klomparens K, Greenberg Y, Janevski P. Surgical Management of Tumoral Calcinosis of the Hand: A Case Report. J Hand Microsurg 2024; 16:100046. [PMID: 38855518 PMCID: PMC11144637 DOI: 10.1055/s-0043-1771230] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/11/2024] Open
Abstract
Primary tumoral calcinosis is a rare and benign condition characterized by calcium salt deposition in periarticular soft tissues. It typically presents as a firm, rubbery mass that arises around large joints. While an estimated 250 cases have been described since its discovery, very few cases have been identified in the hand. We present a case of multiple calcified masses in the hand, one of which required meticulous dissection from a digital neurovascular bundle, and our technique for surgical excision. We present this case to lower the threshold for clinical suspicion of tumoral calcinosis for patients who present with a soft tissue mass in the hand. Furthermore, we recommend prompt surgical excision due to low success rates of alternative treatment options and to prevent potential neurovasculature or tendon injury.
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Affiliation(s)
- Madeleine R. Gonte
- Department of Plastic Surgery, Henry Ford Hospital, Detroit, Michigan, United States
- Wayne State University School of Medicine, Detroit, Michigan, United States
- Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, United States
| | - Collin Brooks
- Department of Plastic Surgery, Henry Ford Hospital, Detroit, Michigan, United States
- Wayne State University School of Medicine, Detroit, Michigan, United States
| | - Kara Klomparens
- Department of Plastic Surgery, Henry Ford Hospital, Detroit, Michigan, United States
- Wayne State University School of Medicine, Detroit, Michigan, United States
| | - Yitzchok Greenberg
- Department of Plastic Surgery, Henry Ford Hospital, Detroit, Michigan, United States
| | - Peter Janevski
- Department of Plastic Surgery, Henry Ford Hospital, Detroit, Michigan, United States
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19
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Ivanova NG. A Sole Case of the FGF23 Gene Mutation c.202A>G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis-A Case Report. Life (Basel) 2024; 14:613. [PMID: 38792634 PMCID: PMC11123361 DOI: 10.3390/life14050613] [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: 04/07/2024] [Revised: 05/02/2024] [Accepted: 05/08/2024] [Indexed: 05/26/2024] Open
Abstract
Tumoral calcinosis is an extremely rare genetic disease caused by mutations in three genes, GALNT3, FGF23, and KL, which disrupt phosphorus metabolism. The hallmark of this condition is the formation of tumors in the soft tissues around the joints. Other phenotypic features of tumoral calcinosis are dental involvement and brain and vascular calcifications. The clinical case reported herein presents for the first time to the scientific community the c.202A>G (p.Thr68Ala) mutation of the FGF23 gene, associated with a hyperphosphatemic variant of tumoral calcinosis and multiple severe vascular aneurysms. A female patient underwent multiple surgeries for tumor formations in her soft tissues that first appeared at the age of 12 months. On this occurrence, the patient was found to have hyperphosphatemia, low phosphate clearance, increased tubular reabsorption with normal levels of total and ionized calcium, vitamin D3, and parathyroid hormone, and no effect of treatment with sevelamer hydrochloride and a low-phosphate diet. At the age of 39, the patient underwent imaging studies due to edema and a pulsating formation in the neck area, which revealed multiple vascular aneurysms with thrombosis, for which she received operative and interventional treatment. In this connection, and because of the established phosphorus metabolism disturbance, a genetic disease was suspected. The sequence analysis and deletion/duplication testing of the 358 genes performed on this occasion revealed that the woman was homozygous for a variant of the c.202A>G (p.Thr68Ala) mutation of the FGF23 gene. The established mutation is not present in population databases. The presented clinical case is the first and only one in the world to demonstrate the role of this type of FGF23 gene mutation in the development of a hyperphosphatemic variant of tumoral calcinosis characterized by aggressive formation of multiple vascular aneurysms.
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Affiliation(s)
- Nevena Georgieva Ivanova
- Department of Urology and General Medicine, Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria; ; Tel.: +35-98-8913-0416
- St Karidad MHAT, Karidad Medical Health Center, 4004 Plovdiv, Bulgaria
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20
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Desai S, Goyal D, Gaitonde A, Osan P, Joshi S. Heavily calcified synovial sarcoma leading to chronic thigh pain and swelling. Skeletal Radiol 2024; 53:821-824. [PMID: 37819280 DOI: 10.1007/s00256-023-04475-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/09/2023] [Revised: 09/28/2023] [Accepted: 10/01/2023] [Indexed: 10/13/2023]
Affiliation(s)
- Sanjay Desai
- Head CT and MRI Division, Deenanath Mangeshkar Hospital and Research Centre, Pune, India
| | - Devendra Goyal
- Deenanath Mangeshkar Hospital and Research Centre, Pune, India
| | - Amith Gaitonde
- Deenanath Mangeshkar Hospital and Research Centre, Pune, India.
| | - Preeti Osan
- Deenanath Mangeshkar Hospital and Research Centre, Pune, India
| | - Sujit Joshi
- Deenanath Mangeshkar Hospital and Research Centre, Pune, India
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21
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Noguchi T, Sakamoto A, Kakehi K, Matsuda S. New method of local adjuvant therapy with bicarbonate Ringer's solution for tumoral calcinosis: A case report. World J Orthop 2024; 15:302-309. [PMID: 38596192 PMCID: PMC10999962 DOI: 10.5312/wjo.v15.i3.302] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/03/2023] [Revised: 01/06/2024] [Accepted: 01/24/2024] [Indexed: 03/15/2024] Open
Abstract
BACKGROUND Tumoral calcinosis is a condition characterized by deposits of calcium phosphate crystals in extra-articular soft tissues, occurring in hemodialysis patients. Calcium phosphate crystals are mainly composed of hydroxyapatite, which is highly infiltrative to tissues, thus making complete resection difficult. An adjuvant method to remove or resolve the residual crystals during the operation is necessary. CASE SUMMARY A bicarbonate Ringer's solution with bicarbonate ions (28 mEq/L) was used as the adjuvant. After resecting calcium phosphate deposits of tumoral calcinosis as much as possible, while filling with the solution, residual calcium phosphate deposits at the pseudocyst wall can be gently scraped by fingers or gauze in the operative field. A 49-year-old female undergoing hemodialysis for 15 years had swelling with calcium deposition for 2 years in the shoulders, bilateral hip joints, and the right foot. A shoulder lesion was resected, but the calcification remained and early re-deposition was observed. Considering the difficulty of a complete rection, we devised a bicarbonate dissolution method and excised the foot lesion. After resection of the calcified material, the residual calcified material was washed away with bicarbonate Ringer's solution. CONCLUSION The bicarbonate dissolution method is a new, simple, and effective treatment for tumoral calcinosis in hemodialysis patients.
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Affiliation(s)
- Takashi Noguchi
- Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan
| | - Akio Sakamoto
- Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan
| | - Kensaku Kakehi
- Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan
| | - Shuichi Matsuda
- Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan
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22
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Asoy JCC, Yap JLD. Metastatic Calcinosis Cutis: Unusual Locations in End-Stage Renal Disease. Cureus 2024; 16:e53835. [PMID: 38465136 PMCID: PMC10924655 DOI: 10.7759/cureus.53835] [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: 02/08/2024] [Indexed: 03/12/2024] Open
Abstract
Metastatic calcinosis cutis is a rare consequence of end-stage renal disease (ESRD), which occurs due to elevated levels of serum phosphorus and abnormal phosphate and calcium metabolism, leading to the precipitation and deposition of calcium in the cutaneous and subcutaneous tissues. This paper reports the case of a 33-year-old male with ESRD and a six-year history of hemodialysis treatment who presented with multiple areas of gradually enlarging, lobulated calcified soft tissue masses observed bilaterally at the level of the acromioclavicular joint and superomedial aspect of the right thigh, extensively involving the perineal region and the right superior anterior chest wall. The unique character of this case is the rare involvement of the sternoclavicular joint and the symphysis pubis. The relevant laboratory findings included elevated levels of serum phosphorus, blood urea nitrogen, and creatinine, which were consistent with metastatic calcinosis cutis as a consequence of ESRD. The treatment of secondary calcinosis cutis primarily includes low-calcium and low-phosphorus diets, dialysates, and phosphate binders, except aluminum-containing binders, which were advised for this patient. Imaging is the mainstay for the diagnosis of calcinosis cutis, and as metastatic calcinosis cutis is an infrequent and debilitating consequence of ESRD, prompt diagnosis and appropriate treatment are paramount.
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Affiliation(s)
- Jc Charm C Asoy
- Department of Radiology, Northern Mindanao Medical Center, Cagayan de Oro, PHL
| | - Justin Luke D Yap
- Department of Radiology, Northern Mindanao Medical Center, Cagayan de Oro, PHL
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23
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He L, Li M, Lin C, Yan K, Yang C, Tang J. Multiple uremic tumoral calcinosis in periarticular soft tissues with chronic renal failure: a case report. Front Endocrinol (Lausanne) 2023; 14:1249680. [PMID: 37766678 PMCID: PMC10520460 DOI: 10.3389/fendo.2023.1249680] [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: 06/29/2023] [Accepted: 08/11/2023] [Indexed: 09/29/2023] Open
Abstract
Uremic tumoral calcinosis (UTC) is an uncommon and severe complication of hemodialysis therapy. The most important pathogenic factor involved in UTC is an increase in calcium-phosphorus products. We report here a patient undergoing hemodialysis for renal failure caused by hypertensive nephropathy who presented multiple UTCs in the right shoulder, left elbow and wrist. After surgical excision, they all recurred, with a similar UTC in the left shoulder. By observing the imaging features of various imaging examinations during the whole period of this case, including X-ray, computed tomography (CT), magnetic resonance imaging (MRI), and single-photon emission computed tomography (SPECT), we highlight the importance of imaging for evaluating the state of UTC regarding treatment options, further deepening our understanding of the imaging manifestations for this disease and their clinical significance.
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Affiliation(s)
- Lijin He
- Department of Radiology, Affiliated Hospital of Putian University, Fujian, China
| | - Meifang Li
- Department of Radiology, Affiliated Hospital of Putian University, Fujian, China
| | - Chenlan Lin
- Department of Radiology, Affiliated Hospital of Putian University, Fujian, China
| | - Kunlong Yan
- Department of Radiology, Affiliated Hospital of Putian University, Fujian, China
| | - Chengmin Yang
- Department of Radiology, West China Hospital of Sichuan University, Chengdu, China
| | - Jing Tang
- Department of Radiology, West China Hospital of Sichuan University, Chengdu, China
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24
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Ryan PM, Sprowls GR, Ward RA, Zriek R, Fritchie K. Tumoral calcinosis of the knee treated with open, physeal sparing iliotibial band ACL reconstruction. Knee 2023; 43:1-9. [PMID: 37201440 DOI: 10.1016/j.knee.2023.04.018] [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: 01/08/2023] [Revised: 04/25/2023] [Accepted: 04/30/2023] [Indexed: 05/20/2023]
Abstract
Tumoral calcinosis is a hereditary disease of calcium and phosphate metabolism causing peri-articular tumors of calcium deposits. We present a case of tumoral calcinosis in a 13-year-old male with a history of a 12q13.11 genetic deletion. Surgical resection of the tumor necessitated resection of the ACL in its entirety with curettage and adjuvant therapy to the lateral femoral notch, which resulted in ligamentous instability and bony structural incompetency at the femoral insertion. Given the patient's radiographically-apparent skeletal immaturity, and lack of reliable bony architecture to accommodate a femoral ACL tunnel, ACL reconstruction was performed using a physeal-sparing technique. This is a case of tumoral calcinosis treated with, to our knowledge, the first ACL reconstruction using this modified open technique.
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Affiliation(s)
- Patrick M Ryan
- Department of Orthopaedic Surgery, Baylor Scott & White Health, Temple, TX, United States.
| | - Gregory R Sprowls
- Department of Orthopaedic Surgery, Baylor Scott & White Health, Temple, TX, United States
| | - Russell A Ward
- Department of Orthopaedic Surgery, Baylor Scott & White Health, Temple, TX, United States; College of Medicine, Texas A&M University, Temple, TX, United States
| | - Riyam Zriek
- College of Medicine, Texas A&M University, Temple, TX, United States
| | - Karen Fritchie
- College of Medicine, Texas A&M University, Temple, TX, United States
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25
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Kim J, Johnson BR, Tamaki A, Lavertu P. A case report of uremic tumoral calcinosis in the head and neck and literature review of calcified lesions of the head and neck. Am J Otolaryngol 2023; 44:103862. [DOI: 10.1016/j.amjoto.2023.103862] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2023] [Accepted: 03/19/2023] [Indexed: 03/30/2023]
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26
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AlShamsi M, AlDhamin A. Tumoral calcinosis in the extensor indicis proprius tendon: A case report. Clin Case Rep 2023; 11:e7541. [PMID: 37397572 PMCID: PMC10307994 DOI: 10.1002/ccr3.7541] [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: 03/23/2023] [Revised: 05/09/2023] [Accepted: 05/29/2023] [Indexed: 07/04/2023] Open
Abstract
Tumoral calcinosis is a rare clinicopathological entity characterized by the presence of calcified deposits in the periarticular soft tissue. Commonly affecting the hips, buttock, shoulders, and elbow, and less commonly in hands, wrists, and feet. We present a novel case of tumoral calcinosis in a 4-year-old female with an atraumatic wrist swelling for 2 months. It was a diagnostic enigma for the surgeon due to the peculiar site of presentation. However, with the help of a pathologist, we diagnosed and successfully treated tumoral calcinosis of the extensor indicis proprius tendon.
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27
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Wathanavasin W, Tanateerapong P, Susantitaphong P. Multiple Painless Masses in a Peritoneal Dialysis Patient. KIDNEY360 2023; 4:713-714. [PMID: 37229732 PMCID: PMC10371282 DOI: 10.34067/kid.0000000000000085] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/10/2022] [Accepted: 11/17/2022] [Indexed: 05/27/2023]
Affiliation(s)
- Wannasit Wathanavasin
- Nephrology Unit, Department of Medicine, Charoenkrung Pracharak Hospital, Bangkok Metropolitan Administration, Bangkok, Thailand
| | - Patchara Tanateerapong
- Nephrology Unit, Department of Medicine, Charoenkrung Pracharak Hospital, Bangkok Metropolitan Administration, Bangkok, Thailand
| | - Paweena Susantitaphong
- Division of Nephrology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
- Research Unit for Metabolic Bone Disease in CKD Patients, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
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28
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Liu L, Zhao J, Hong L, Li J. Tumoral Calcinosis in the Larynx. EAR, NOSE & THROAT JOURNAL 2023:1455613231166586. [PMID: 36961766 DOI: 10.1177/01455613231166586] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/25/2023] Open
Abstract
Tumoral calcinosis is a rare benign disease defined as calcium salt deposits in the periarticular soft tissue region. Tumoral calcinosis is rare in the neck and larynx. In this case, we described a 58-year-old man who had numerous calcified nodules in the larynx.
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Affiliation(s)
- Lianlian Liu
- Department of Otolaryngology Head and Neck Surgery, The Sixth Medical Center of PLA General Hospital, Beijing, China
- The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China
| | - Jing Zhao
- Department of Otolaryngology Head and Neck Surgery, The Sixth Medical Center of PLA General Hospital, Beijing, China
| | - Liu Hong
- Department of Pathology, The Sixth Medical Center of PLA General Hospital, Beijing, China
| | - Jinrang Li
- Department of Otolaryngology Head and Neck Surgery, The Sixth Medical Center of PLA General Hospital, Beijing, China
- The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China
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29
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Assis S, Garcia J. A rare femoral heterotopic bone formation in a 14th-19th century female skeleton from Constância (Portugal). INTERNATIONAL JOURNAL OF PALEOPATHOLOGY 2023; 40:93-98. [PMID: 36628891 DOI: 10.1016/j.ijpp.2022.12.004] [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: 09/26/2022] [Revised: 11/27/2022] [Accepted: 12/20/2022] [Indexed: 06/17/2023]
Abstract
OBJECTIVE This paper aims to: (1) document a rare femoral heterotopic ossification (HO), and (2) discuss its aetiology and impact on the individual's locomotion and daily living activities. MATERIALS Adult female skeleton (SG.14-SK.7) from the village of Constância (Portugal), and dated from the 14th-19th centuries CE. METHODS The biological profile and the macroscopic analysis of the bone changes were assessed using standardized methods. RESULTS The macroscopic analysis revealed a large bony mass (8 cm length) located immediately inferior to the small trochanter of the right femur. The lesion exhibited a compact, tubular appearance located at the site of attachment of the pectineus muscle. No signs of bone fracture were observed. CONCLUSIONS The morphology of the SG.14-SK.7 femoral lesion is compatible with a probable case of myositis ossificans traumatica (MOT), secondary to acute trauma of the pectineus muscle. The underlying trauma episode, such as random accidental and/or occupation-related injury, is unknown. However, it is highly possible that this self-limiting condition significantly impaired the individual's daily life and mobility. SIGNIFICANCE Evidence of severe acute muscle trauma is a rare finding compared with HO secondary to bone trauma and other minor muscle injuries. Moreover, no cases of MOT affecting the pectineus muscle have been reported in the paleopathological literature to date. LIMITATIONS Although unlikely, a case of neurogenic or burn-related HO cannot be completely disregarded. It was not possible to undertake radiography as part of this study. SUGGESTIONS FOR FURTHER RESEARCH The use of imaging techniques to complement the paleopathological description is advised.
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Affiliation(s)
- Sandra Assis
- CRIA - Centro em Rede de Investigação em Antropologia, Faculdade de Ciências Sociais e Humanas, Universidade NOVA de Lisboa, Lisboa, Portugal; CIAS - Research Centre for Anthropology and Health, University of Coimbra, Coimbra, Portugal.
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30
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Yokochi R, Hagino N. Clinical Images: Massive soft-tissue calcification in primary Sjogren syndrome. ACR Open Rheumatol 2023; 5:114. [PMID: 36694446 PMCID: PMC10010483 DOI: 10.1002/acr2.11528] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2022] [Revised: 12/29/2022] [Accepted: 01/03/2023] [Indexed: 01/26/2023] Open
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Sakhy Y, Taoussi R, Vianney N, Sabiri M, Labied M, Lembarki G, El Manjra S, Lezar S, Essodegui F. Tumoral calcinosis of unusual location in a chronic hemodialysis patient. BJR Case Rep 2023; 9:20220083. [PMID: 36998340 PMCID: PMC10043596 DOI: 10.1259/bjrcr.20220083] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/02/2022] [Revised: 01/15/2023] [Accepted: 01/23/2023] [Indexed: 02/05/2023] Open
Abstract
Tumoral calcinosis is a rare cause of intratissular calcifications in hemodialysis patients with chronic renal failure. Its frequency is estimated between 0.5 and 7% of patients. We illustrate through a case of unusual localization diagnosed in our institution, the radiographic and scannographic aspect of this little known entity. A 40-year-old man, followed for hypertensive cardiopathy, in chronic renal failure for 12 years under hemodialysis, consulted for bilateral inguinal swellings evolving in a progressive and painless way. Biological investigations revealed hyperparathyroidism with increased phosphocalcic product. He was referred to us for radiological evaluation which revealed lesions in favor of bilateral pubo-inguinal tumor calcinosis. Tumoral calcinosis is a rare cause of intratissular calcifications in chronic renal failure patients undergoing hemodialysis. Pubic localization with infiltration and osteolysis of the symphysis pubis is very rare. Its main risk factors are the existence of hyperparathyroidism, an increase in phosphocalcic product and probably local traumatic factors. Tumoral calcinosis has a typical appearance on radiographs: amorphous, cystic and multilobulated calcifications of periarticular distribution. The CT scan allows a better delineation of the calcified mass. Its treatment remains controversial. The knowledge of osteoarticular manifestations of chronic hemodialysis patients, especially tumoral calcinosis by radiologists, allows to easily make the diagnosis and thus avoid invasive complementary explorations for the patient and to quickly institute an effective treatment.
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Affiliation(s)
- Youssef Sakhy
- Resident of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Reda Taoussi
- Resident of Radiology at the Emergency Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Ndayishimiye Vianney
- Resident of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Mouna Sabiri
- Professor of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Mohammed Labied
- Professor of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Ghizlane Lembarki
- Professor of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Samia El Manjra
- Professor of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Samira Lezar
- Professor of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
| | - Fatiha Essodegui
- Professor of Radiology at the Central Radiology Department, Ibn Rochd University Hospital, Casablanca, Morocco
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Houss SE, LRhorfi N, Yousfi ZE, Haddad SEL, Chat L, Allali N, Rguieg N, Lamalmi N. Hyperphosphatemic familial tumoral calcinosis mimicking a cystic hemo-lymphangioma on MRI. Radiol Case Rep 2022; 17:4603-4607. [PMID: 36193273 PMCID: PMC9525819 DOI: 10.1016/j.radcr.2022.08.071] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/08/2022] [Revised: 08/16/2022] [Accepted: 08/20/2022] [Indexed: 10/26/2022] Open
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Shore RM. Disorders of phosphate homeostasis in children, part 2: hypophosphatemic and hyperphosphatemic disorders. Pediatr Radiol 2022; 52:2290-2305. [PMID: 35536416 DOI: 10.1007/s00247-022-05373-z] [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: 09/19/2021] [Revised: 02/07/2022] [Accepted: 04/01/2022] [Indexed: 11/25/2022]
Abstract
Phosphorus, predominantly in the form of inorganic phosphate PO4-3, has many essential physiological functions. In the skeleton, phosphate and calcium form the mineral component and phosphate is also essential in regulating function of skeletal cells. Considerable advances have been made in our understanding of phosphate homeostasis since the recognition of fibroblast growth factor-23 (FGF23) as a bone-derived phosphaturic hormone. This second part of a two-part review of disorders of phosphate homeostasis in children covers hypophosphatemic and hyperphosphatemic disorders that are of interest to the pediatric radiologist, emphasizing, but not limited to, those related to abnormalities of FGF23 signaling.
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Affiliation(s)
- Richard M Shore
- Department of Medical Imaging, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL, 60611, USA.
- Department of Radiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
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34
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Laasri K, El houss S, Halfi IM, Nassar I, Billah NM. A rare case of idiopathic tumoral calcinosis: Case report. Radiol Case Rep 2022; 17:4350-4353. [PMID: 36188085 PMCID: PMC9520417 DOI: 10.1016/j.radcr.2022.08.038] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2022] [Revised: 08/09/2022] [Accepted: 08/12/2022] [Indexed: 11/30/2022] Open
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35
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Pham TL, Miao J, Singh H, Lee MB, Cage TA. Systemic sclerosis-associated compressive cervical calcinosis: intersection of degenerative spine instability, lesional spinal cord compression, and traumatic spinal cord injury. Illustrative case. JOURNAL OF NEUROSURGERY. CASE LESSONS 2022; 4:CASE22302. [PMID: 36461834 PMCID: PMC9552677 DOI: 10.3171/case22302] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/15/2022] [Accepted: 08/12/2022] [Indexed: 11/09/2022]
Abstract
BACKGROUND Tumoral calcinosis, mass-like calcium deposition into the soft tissues, is an uncommon manifestation of the systemic sclerosis subtype of scleroderma. When this process affects the spinal epidural space, it can cause canal narrowing and place the spinal cord at significant risk of injury. OBSERVATIONS Here a 62-year-old female with systemic sclerosis and no previous evidence of spinal cord compromise who developed acute spinal cord injury and quadriparesis after a mechanical fall is described. She was found to have a large dorsal epidural calcified mass compressing her cervical spinal cord. She underwent medical management for acute spinal cord compression as well as surgical management for acute spinal cord injury and degenerative spine disease. Her case illustrates a rare etiology of simultaneous degenerative spine instability and lesional spinal cord compression with acute spinal cord injury. LESSONS Tumor calcinosis leading to acute spinal cord injury in the setting of systemic sclerosis is an uncommon but critical entity to recognize in patients with scleroderma and may require the physician to use a combination of medical and surgical management strategies from each of these categories of spine pathology.
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Affiliation(s)
- Thu Lan Pham
- Division of Neurosurgery, Santa Clara Valley Medical Center, San Jose, California
| | - Jingya Miao
- Division of Neurosurgery, Santa Clara Valley Medical Center, San Jose, California
| | - Harminder Singh
- Department of Neurosurgery, Stanford University School of Medicine, Stanford, California; and ,Division of Neurosurgery, Santa Clara Valley Medical Center, San Jose, California
| | - Marco B. Lee
- Department of Neurosurgery, Stanford University School of Medicine, Stanford, California; and ,Division of Neurosurgery, Santa Clara Valley Medical Center, San Jose, California
| | - Tene A. Cage
- Department of Neurosurgery, Stanford University School of Medicine, Stanford, California; and ,Division of Neurosurgery, Santa Clara Valley Medical Center, San Jose, California
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36
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Mizutomi K, Ryu Y, Sugimori N, Okamura T, Hayashi H, Kawai H. A case of inflammatory mass resulting from calcium crystal deposition disease around the thoracic spine. Radiol Case Rep 2022; 17:4769-4773. [PMID: 36212763 PMCID: PMC9535289 DOI: 10.1016/j.radcr.2022.09.040] [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: 07/08/2022] [Revised: 09/04/2022] [Accepted: 09/11/2022] [Indexed: 11/05/2022] Open
Abstract
Calcium crystal deposition diseases are transient benign diseases that can cause intense pain. They can sometimes cause masses and soft tissue edema around the calcification, which should be differentiated from tumors and abscesses. We report a case of calcium crystal deposition disease with an enhanced mass on the ventral side of the vertebral bodies resembling tumors and abscesses. A female patient in her 50s visited our hospital complaining of chest pain. Computed tomography revealed a soft tissue mass with polygonal high-density lesions on the ventral side of the thoracic spine. Initially, we suspected it to be a perivertebral tumor and considered a biopsy. However, the pain rapidly improved with the administration of oral acetaminophen (Caronal, Chuo-ku/Tokyo/Japan). Hence, the patient was followed up for the time being. The mass disappeared after 3 months. In addition, polygonal high-density lesions inside the mass disappeared over time. Therefore, it was diagnosed as an inflammatory mass due to calcium crystal deposition disease. Calcium crystal deposition diseases can cause soft tissue edema and inflammatory mass around the calcium crystal deposit that can be confused with a perivertebral tumor. This report elucidates the importance of identifying calcifications within and near the masses to diagnose an inflammatory mass resulting from calcium crystal deposition.
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Affiliation(s)
- Kaori Mizutomi
- Department of Radiology, Tonami General Hospital, Toyama, Japan,Corresponding author.
| | - Yasuji Ryu
- Department of Radiology, Tonami General Hospital, Toyama, Japan
| | | | - Toshiyuki Okamura
- Department of Internal Medicine, Tonami General Hospital, Toyama, Japan
| | - Hiroyuki Hayashi
- Department of Orthopedics, Tonami General Hospital, Toyama, Japan
| | - Hiroshi Kawai
- Department of Internal Medicine, Tonami General Hospital, Toyama, Japan
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Krolikowski M, Vargas CR, Chepla KJ, DiLorenzo D. Mass-like calcific peri-arthritis in the wrist: a rare case presenting as acute carpal tunnel syndrome and requiring surgical intervention. Skeletal Radiol 2022; 51:1883-1888. [PMID: 35149897 DOI: 10.1007/s00256-022-04003-x] [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: 12/07/2021] [Revised: 01/26/2022] [Accepted: 01/26/2022] [Indexed: 02/02/2023]
Abstract
Hydroxyapatite deposition disease (HADD) is a common localized disorder characterized by deposition of hydroxyapatite in soft tissues. These hydroxyapatite deposits can be found in the periarticular soft tissues such as bursae, joint capsules, tendon sheaths, and ligaments as well as within the tendons themselves, and intra-articular involvement has also been described [1,2]. We present a case of a 50-year-old female with acute symptoms of carpal tunnel syndrome secondary to partially liquified, mass-like, inflammatory calcific peri-arthritis. The case is supplemented with the use of multimodality imaging, a surgical perspective, and histopathologic correlation.
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Affiliation(s)
- Michal Krolikowski
- Department of Radiology, Department of Pathology, Department of Surgery, Division of Plastic Surgery, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
| | - Christina R Vargas
- Department of Surgery, Division of Plastic Surgery, University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA
| | - Kyle J Chepla
- Department of Radiology, Department of Pathology, Department of Surgery, Division of Plastic Surgery, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA
| | - David DiLorenzo
- Department of Radiology, Department of Pathology, Department of Surgery, Division of Plastic Surgery, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA
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38
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Shires CB, Shete M. Calcinosis of the internal jugular vein: Interesting presentation of tertiary hyperparathyroidism. Clin Case Rep 2022; 10:e6142. [PMID: 35957795 PMCID: PMC9359114 DOI: 10.1002/ccr3.6142] [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: 12/27/2021] [Revised: 05/31/2022] [Accepted: 07/02/2022] [Indexed: 11/09/2022] Open
Abstract
Tumoral calcinosis is a severe complication of hemodialysis. A 49-year-old male on dialysis for end-stage renal disease developed a large calcified retropharyngeal mass. This caused stridor and dyspnea, necessitating an emergency awake tracheostomy. This is the first report of internal jugular vein calcinosis. Surgery is recommended.
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39
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Santos BB, Pires APC, Tondo LA, Campos DR, Peixoto PV, França TN. Oral Calcinosis Circumscripta Associated with Wasp (Hymenoptera vespidae) Sting in a Cat. J Comp Pathol 2022; 196:16-20. [DOI: 10.1016/j.jcpa.2022.06.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2022] [Revised: 05/11/2022] [Accepted: 06/07/2022] [Indexed: 10/17/2022]
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40
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Găman MA, Gad MM, Bazarbashi N, Gilkeson R, Gupta A. Incidental Finding of Secondary Tumoral Calcinosis Following Cardiothoracic Surgery: The Role of Multimodality Imaging Including Spectral Detector Computed Tomography. Cureus 2022; 14:e26929. [PMID: 35989838 PMCID: PMC9379215 DOI: 10.7759/cureus.26929] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/16/2022] [Indexed: 11/25/2022] Open
Abstract
Tumoral calcinosis is a rare syndrome that affects mostly soft tissues. It is characterized by calcium salt deposition in the periarticular soft tissue surrounding bony structures forming slow-growing, seldom asymptomatic masses. This case report describes a 41-year-old male with end-stage renal disease on home hemodialysis, who presented with an unusual rapidly progressive mass overlying the manubrium and suprasternal notch, following recent cardiothoracic surgery, which was initially felt to be a hematoma. The case highlights the role of spectral detector computed tomography (SDCT) in reaching the correct diagnosis of tumoral calcinosis as well as demonstrating additional changes of ectopic parathyroid hyperplasia in the anterior mediastinum.
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41
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William Whitehouse R, Ahmad G, Kirwadi A, Matthew Howard J. Imaging of Chronic Kidney Disease-Mineral and Bone Disorder. Radiol Clin North Am 2022; 60:547-559. [PMID: 35672088 DOI: 10.1016/j.rcl.2022.02.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
Abstract
The characteristic radiological appearances of metabolic bone and soft tissue diseases in chronic renal failure are described and illustrated in the context of advancing understanding of the complex metabolic changes that occur in chronic kidney disease and its management.
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Affiliation(s)
| | - Gulraiz Ahmad
- Department of Radiology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK
| | - Anand Kirwadi
- Department of Radiology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK
| | - James Matthew Howard
- Department of Radiology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK
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42
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Pires V, Cavaca RP, Oliveira RC, Marques C. Sedimentation sign: a classical finding on tumorous calcinosis. BMJ Case Rep 2022; 15:e247613. [PMID: 35321912 PMCID: PMC8943780 DOI: 10.1136/bcr-2021-247613] [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] [Accepted: 03/16/2022] [Indexed: 11/04/2022] Open
Abstract
The authors describe the case of a man in his 60s who presented with progressive pain and swelling of the right hip. Imaging features showed a densely calcified lesion associated with 'sedimentation sign'. Laboratory tests revealed slight hyperphosphataemia. Surgical excision of the lesion was performed. Histological examination revealed chalky material surrounded by fibrosis and giant multinucleated cells, compatible with tumorous calcinosis. Patient made a full recovery. We report a rare case of tumorous calcinosis and compare this condition with its common mimics.
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Affiliation(s)
- Verena Pires
- Radiology, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
| | - Rita Pereira Cavaca
- Orthopaedics and Traumatology, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
| | | | - Cristina Marques
- Radiology, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
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43
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Yan YY, Dous YNB, Ouellette HA, Munk PL, Murray N, Mallinson PI, Sheikh MA. Periarticular calcifications. Skeletal Radiol 2022; 51:451-475. [PMID: 34155550 DOI: 10.1007/s00256-021-03842-4] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/09/2021] [Revised: 06/12/2021] [Accepted: 06/13/2021] [Indexed: 02/02/2023]
Abstract
Periarticular calcification and ossification is a frequent finding on imaging and may sometimes pose a diagnostic challenge. The differential diagnoses for this radiological finding are wide and can be classified into broad groups such as idiopathic, developmental, trauma, burns, infection, tumor, connective tissue disease, crystalline, metabolic, vascular, and foreign bodies. With careful consideration of the clinical and imaging findings as well as awareness of mimickers of periarticular mineralization, the list of differential diagnoses can be narrowed down. This article aims to review the clinical-radiologic findings of periarticular calcified or ossified lesions with relevant imaging illustrations.
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Affiliation(s)
- Y Y Yan
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada. .,Department of Radiology, Changi General Hospital, 2 Simei Street 3, Singapore, 529889, Singapore.
| | - Y N Bin Dous
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada
| | - H A Ouellette
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada
| | - P L Munk
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada
| | - N Murray
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada
| | - P I Mallinson
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada
| | - M A Sheikh
- Department of Radiology, Musculoskeletal Section, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada
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Tumoral Calcinosis of the Cervical Spine Associated with a Pathologic Odontoid Fracture. Case Rep Neurol Med 2022; 2022:2798490. [PMID: 35036015 PMCID: PMC8759912 DOI: 10.1155/2022/2798490] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/12/2021] [Revised: 12/06/2021] [Accepted: 12/31/2021] [Indexed: 11/17/2022] Open
Abstract
Tumoral calcinosis involves focal calcium deposits in the soft tissues surrounding a joint and most commonly occurs in the hips and elbows, rarely in the cervical spine. Furthermore, it has not been known to be associated with pathologic fractures. To the best of our knowledge, our case report highlights the first case of a pathologic type II odontoid fracture associated with adjacent tumoral calcinosis, resulting in pain, dysphagia, and severe spinal stenosis. The patient underwent a posterior occipitocervical fusion and C1 laminectomy, along with planned tracheostomy and gastrostomy to avoid expected difficulty with postoperative extubation and dysphagia. Additionally, we present a review of existing literature on tumoral calcinosis in the upper cervical spine.
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45
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Park SS, Yim SJ, Park SH. Pathologic Fracture of Femoral Neck in a Patient with Tumoral Calcinosis. Hip Pelvis 2022; 34:122-126. [PMID: 35800127 PMCID: PMC9204241 DOI: 10.5371/hp.2022.34.2.122] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/23/2021] [Revised: 10/27/2021] [Accepted: 10/29/2021] [Indexed: 11/28/2022] Open
Abstract
Tumoral calcinosis is a rare disease characterized by massive subcutaneous soft tissue deposits of calcium phosphate around large joints in patients with chronic kidney disease. Invasion of bone by tumoral calcinosis is rare. We experienced a case involving a femoral neck pathologic fracture due to bony invasion of tumoral calcinosis in a 46-year-old female with chronic kidney disease who had been on dialysis for 15 years. Successful outcomes were obtained by performance of total hip arthroplasty for treatment of the pathologic fracture of the femoral neck. Careful precaution is necessary to prevent pathologic fractures in patients with tumoral calcinosis around the hip joint.
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Affiliation(s)
- Seong-San Park
- Department of Orthopedic Surgery, Soonchunhyang University Bucheon Hospital, Bucheon, Korea
| | - Soo Jae Yim
- Department of Orthopedic Surgery, Soonchunhyang University Bucheon Hospital, Bucheon, Korea
| | - Sin Hyung Park
- Department of Orthopedic Surgery, Soonchunhyang University Bucheon Hospital, Bucheon, Korea
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46
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Huang J, Cao LG, Zhang TR, Li SM, Meng QQ. Primary hyperphosphatemic tumoral calcinosis: a case report. Osteoporos Int 2022; 33:309-312. [PMID: 34245344 DOI: 10.1007/s00198-021-06056-5] [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: 03/01/2021] [Accepted: 06/29/2021] [Indexed: 11/26/2022]
Abstract
Tumoral calcinosis (TC) is a rare disease characterized by periarticular soft tissue calcification. Some cases were reported in Africa and the Middle East. We report an 11-year-old Chinese girl presenting with recurrent multiple subcutaneous masses around the right elbow and hip regions. Although we found abnormalities in FGF23, a protein associated with phosphate metabolism, no positive results were observed in gene sequencing and analysis. The imaging features, laboratory examination, and pathology results confirmed our diagnosis. By using oral phosphorus-lowering drugs (acetazolamide) combined with complete surgical excision, good results were achieved, and no recurrence was reported during the follow-up of 18 months. We report a case of primary hyperphosphatemic TC. The combined use of oral phosphorus-lowering drugs (acetazolamide) and complete surgical excision produced good results, and no recurrence was reported during the follow-up of 18 months.
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Affiliation(s)
- J Huang
- Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China
| | - L-G Cao
- Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China
| | - T-R Zhang
- Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China
| | - S-M Li
- Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China.
| | - Q-Q Meng
- Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China.
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47
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Zuo Q, Yang W, Liu B, Yan D, Wang Z, Wang H, Deng W, Cao X, Yang J. A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation. Front Endocrinol (Lausanne) 2022; 13:1008800. [PMID: 36213261 PMCID: PMC9540505 DOI: 10.3389/fendo.2022.1008800] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/01/2022] [Accepted: 09/01/2022] [Indexed: 11/13/2022] Open
Abstract
BACKGROUND Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disease characterized by hyperphosphatemia and ectopic calcification, predominantly at periarticular locations. This study was performed to characterize the clinical profile of tumoral calcinosis and to identify gene mutations associated with HFTC and elucidated its pathogenic role. METHODS The three subjects (two male and one female) were aged 30, 25 and 15 years, respectively. The clinical features, histopathological findings, and outcomes of three subjects with HFTC were retrospectively reviewed. The three subjects were analyzed for FGF23, GALNT3 and KL mutations. Function of mutant gene was analyzed by western blotting and wheat germ agglutinin affinity chromatography. RESULTS All subjects had hyperphosphatemia and elevated calcium-phosphorus product. Calcinosis positions included the left shoulder, left index finger, and right hip. Bone and joint damage were present in two cases and multiple foci influenced body growth in one case. The histopathological features were firm, rubbery masses comprising multiple nodules of calcified material bordered by the proliferation of mononuclear or multinuclear macrophages, osteoclastic-like giant cells, fibroblasts, and chronic inflammatory cells. The novel mutation c.484A>G (p.N162D) in exon 3 of FGF23 was identified in one subject and his family members. Measurement of circulating FGF23 in the subject confirmed low intact FGF23 and increased C-terminal fragment. In vitro experiments showed that the mutant FGF23 proteins had defective O-glycosylation and impaired protein proteolysis protection. CONCLUSION We identified a novel FGF23 missense mutation, and confirmed its damaging role in FGF23 protein O-glycosylation. Our findings expand the current spectrum of FGF23 variations that influence phosphorus metabolism.
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Affiliation(s)
- Qingyao Zuo
- Department of Endocrinology, Beijing Jishuitan Hospital, Beijing, China
| | - Weili Yang
- Beijing Diabetes Institute, Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
| | - Baoyue Liu
- Department of Pathology, Beijing Jishuitan Hospital, Beijing, China
| | - Dong Yan
- Department of Radiology, Beijing Jishuitan Hospital, Beijing, China
| | - Zhixin Wang
- Department of Endocrinology, Beijing Jishuitan Hospital, Beijing, China
| | - Hong Wang
- Department of Endocrinology, Beijing Jishuitan Hospital, Beijing, China
| | - Wei Deng
- Department of Endocrinology, Beijing Jishuitan Hospital, Beijing, China
| | - Xi Cao
- Beijing Diabetes Institute, Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
- *Correspondence: Xi Cao, ; Jinkui Yang,
| | - Jinkui Yang
- Beijing Diabetes Institute, Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
- *Correspondence: Xi Cao, ; Jinkui Yang,
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Finkelstein D, Foremny G, Singer A, Clifford P, Pretell-Mazzini J, Kerr DA, Subhawong TK. Differential diagnosis of T2 hypointense masses in musculoskeletal MRI. Skeletal Radiol 2021; 50:1981-1994. [PMID: 33651128 DOI: 10.1007/s00256-021-03711-0] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/01/2020] [Revised: 01/05/2021] [Accepted: 01/06/2021] [Indexed: 02/02/2023]
Abstract
Many soft tissue masses have an indeterminate appearance on MRI, often displaying varying degrees and extent of T2 hyperintensity. However, a subset of neoplasms and tumor-like lesions may exhibit prominent areas of T2 hypointensity relative to skeletal muscle. The hypointensity observed on T2-weighted MRI can be caused by a variety of substances, including evolving blood products, calcifications or other inorganic crystals, or fibrous tissue. Carefully evaluating the presence and pattern of T2 hypointensity in soft tissue masses and considering potential causes in their associated clinical contexts can help to narrow the differential diagnosis among neoplastic and non-neoplastic possibilities. These include endometriosis, aneurysmal bone cysts, tenosynovial giant cell tumor, arteriovenous malformation and pseudoaneurysm, calcium pyrophosphate and hydroxyapatite deposition diseases, tumoral calcinosis, gout, amyloidosis, hemangiomas with phleboliths, low-grade fibromyxoid sarcoma, ossifying fibromyxoid tumor, collagenous fibroma, desmoid-type fibromatosis, myxofibrosarcoma, peripheral nerve sheath tumors, dedifferentiated liposarcoma, and treated sarcoma.
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Affiliation(s)
- Dara Finkelstein
- Department of Radiology, University of Miami Miller School of Medicine/Jackson Memorial Hospital, 1611 NW 12th Ave, JMH WW 279, Miami, FL, 33136, USA
| | - Gregory Foremny
- Department of Radiology, University of Miami Miller School of Medicine/Jackson Memorial Hospital, 1611 NW 12th Ave, JMH WW 279, Miami, FL, 33136, USA
| | - Adam Singer
- Department of Radiology, Emory University Hospital, Atlanta, GA, 30322, USA
| | - Paul Clifford
- Department of Radiology, University of Miami Miller School of Medicine/Jackson Memorial Hospital, 1611 NW 12th Ave, JMH WW 279, Miami, FL, 33136, USA
| | - Juan Pretell-Mazzini
- Department of Orthopaedics, University of Miami Miller School of Medicine/Jackson Memorial Hospital, Miami, FL, 33136, USA
| | - Darcy A Kerr
- Department of Pathology, Geisel School of Medicine at Dartmouth, Dartmouth-Hitchcock Medical Center, Lebanon, NH, 03756, USA
| | - Ty K Subhawong
- Department of Radiology, University of Miami Miller School of Medicine/Jackson Memorial Hospital, 1611 NW 12th Ave, JMH WW 279, Miami, FL, 33136, USA.
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Test yourself answer: multiple firm soft tissue masses. Skeletal Radiol 2021; 50:2127-2128. [PMID: 33768275 DOI: 10.1007/s00256-021-03762-3] [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: 02/03/2021] [Revised: 03/15/2021] [Accepted: 03/16/2021] [Indexed: 02/02/2023]
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50
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Aslan B, Varlı B, Öztürk Ç, Ortaç UF. A case of tumoral calcinosis in anterior vaginal wall. J OBSTET GYNAECOL 2021; 42:535-536. [PMID: 34558379 DOI: 10.1080/01443615.2021.1952169] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/20/2022]
Affiliation(s)
- Batuhan Aslan
- Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey
| | - Bulut Varlı
- Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey
| | - Çağatayhan Öztürk
- Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey
| | - Uğur Fırat Ortaç
- Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey
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