Blau syndrome | |
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Classification and external resources | |
Coarse facial features in a boy with Blau syndrome |
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OMIM | 186580 |
DiseasesDB | 32725 |
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.[1][2] Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema.[3] Camptodactyly is another feature, and Crohn's disease occurs in 30%.[4]
It is associated with mutations in the NOD2 (a.k.a. CARD15) gene.