An Interesting Case of Blau Syndrome – A Rare Autoinflammatory Disease

Abstract

Blau syndrome is an autosomal dominant, autoinflammatory disease. It typically presents in early childhood with a triad of granulomatous uveitis, symmetrical arthritis, and dermatitis. A 6-year-old child presented to us after being diagnosed with granulomatous uveitis. Examination revealed bilateral boggy wrist swellings. Suspecting Blau syndrome, clinical exome sequencing was performed, which reported a mutation in the NOD2/CARD15 gene confirming the diagnosis. Our case demonstrates that the classical triad of this disease may not be present in all patients, and all features may not occur simultaneously. A high index of suspicion is required for the diagnosis of this rare disease.