Blau syndrome

Blau syndrome is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an autosomal dominantly inherited syndrome that overlaps both sarcoidosis and granuloma annulare. Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema. Camptodactyly is another feature, and Crohn's disease occurs in 30%.

It is associated with mutations in the NOD2 (a.k.a. CARD15) gene.