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Blau syndrome at a tertiary care center of Eastern India: Two case reports and review of literature
Amit Raj, Prateek Nishant, Roshan Kumar, Ankita Sharma, Prabhakar Singh, Pratap Kumar Patra, Sony Sinha
Amit Raj, Department of Ophthalmology-Cornea and Refractive Surgery, All India Institute of Medical Sciences, Patna 801507, Bihār, India
Prateek Nishant, Department of Retina and Uvea, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna 800014, Bihār, India
Roshan Kumar, Vitreoretina and Uvea, Drishtipunj Eye Hospital, Patna 801503, Bihār, India
Ankita Sharma, Department of Ophthalmology, Atal Bihari Vajpayee Institute of Medical Sciences and Dr Ram Manohar Lohia Hospital, New Delhi 110001, Delhi, India
Prabhakar Singh, Department of Ophthalmology-Cornea and Ocular Surface, All India Institute of Medical Sciences, Kalyani 741245, West Bengal, India
Pratap Kumar Patra, Department of Pediatrics, All India Institute of Medical Sciences, Patna 801507, Bihār, India
Sony Sinha, Department of Ophthalmology-Vitreoretina and Oculoplasty, Patna Institute of Medical Sciences, Patna 801507, Bihār, India
Co-first authors: Amit Raj and Prateek Nishant.
Author contributions: Sinha S conceptualized the research; Raj A, Sinha S, and Nishant P designed the work; Nishant P and Sinha S performed the literature review and acquired the data; Raj A, Kumar R, Sharma A, Singh A, Patra PK, and Sinha S provided clinical material and analyzed and interpreted the data; Raj A, Nishant P, Sharma A, and Sinha S drafted the manuscript; Kumar R, Singh P, and Patra PK reviewed the manuscript; All authors read and approved the final version of the manuscript submitted and agree to be accountable for all aspects of the work presented therein. Raj A and Nishant P contributed equally to the research and are hence listed as co-first authors.
Informed consent statement: The authors certify that the patients’ guardians have given their consent for their images and other clinical information to be reported in the journal. The patients’ guardians duly understand that their children’s names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Sony Sinha, Additional Professor, Department of Ophthalmology-Vitreoretina and Oculoplasty, Patna Institute of Medical Sciences, Phulwarisharif, Patna 801507, Bihār, India.
dr.sony11776@aiimspatna.org
Received: January 12, 2026
Revised: February 16, 2026
Accepted: March 10, 2026
Published online: April 6, 2026
Processing time: 84 Days and 11.5 Hours
BACKGROUND
Blau syndrome (BS) is a rare sporadic or autosomal dominant multi-system inflammatory condition attributable to mutations in the nucleotide binding oligomerization domain containing 2 gene. It classically manifests as a triad of skin rash, uveitis and arthritis, although the phenotype may vary and pose diagnostic dilemmas in the presence of systemic co-morbidities.
CASE SUMMARY
We describe two sporadic cases with different clinical profiles. Case 1: A 5-year-old male presented with a history of erythematous skin lesions all over the body since the age of 6 months and recurrent fever and knee and wrist joint pains for the past year, associated with progressive diminution of vision. He had dry, scaly skin, malar erythema and bilaterally swollen wrist, ankle and knee joints, bilateral band-shaped keratopathy, and bilateral post-uveitis cataracts. Case 2: An 11-year-old male previously diagnosed with polyarticular juvenile idiopathic arthritis, tubulointerstitial nephritis, seizure disorder, restrictive lung disease, and multidrug-resistant pulmonary tuberculosis, presented with bilateral granulomatous uveitis. Fundus examination of the right eye showed fibrovascular proliferation over the disc secondary to retinal vasculitis and exudative shallow retinal detachment. Both patients were diagnosed with BS and treated with corticosteroids and adalimumab, leading to improvement in systemic and ocular symptoms over the next 2 years. Case 1 underwent bilateral cataract surgery with a good visual outcome.
CONCLUSION
The diagnosis of BS is important to consider in very young children with arthritis and uveitis. Timely interdepartmental referral and collaboration is prudent. Prompt multidisciplinary management is required to prevent significant morbidity.
Core Tip: Blau syndrome (BS) manifests as uveitis, arthritis, and skin rash, and although rare, is an important consideration in children with such manifestations. It may pose a diagnostic dilemma in the presence of systemic comorbidities. A multidisciplinary approach leads to management of this condition with satisfactory outcomes. The present series describes the presentation, diagnosis, and management of two sporadic cases of BS.
