Blau syndrome

Blau syndrome
Other namesArthrocutaneouveal granulomatosis
Coarse facial features in a boy with Blau syndrome
SpecialtyDermatology

Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the NOD2 (CARD15) gene. and is classified as an inborn error of immunity. Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.

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