Blau syndrome (Familial granulomatous arthritis, iritis, and rash) in an African-American family

Blau syndrome (familial granulomatous arthritis, iritis, and rash) was orig inally described in 1985, in 11 members of a family of Dutch ancestry. Inhe ritance is autosomal dominant. Several more Caucasian families have been de scribed since. Skin and synovial biopsy specimens show noncaseating sarcoid like granulomas, but the lung is not involved as in classic sarcoidosis. T his report describes 3 members of an African American family with Blau synd rome. It is important to differentiate this genetic disorder from other chi ldhood arthritides, such as, juvenile rheumatoid arthritis, juvenile spondy loarthropathies, and early-onset sarcoidosis, because of the need for genet ic counseling, treatment and differing potential for selective involvement of other organs (eye, skin, and tendons/joints). All children of an affecte d individual have a 50% chance of inheriting the disease. Unaffected childr en do not have to be concerned about subsequent generations being affected. The response to conventional treatments used in juvenile rheumatoid arthrit is and to etanercept in our patients has not been satisfactory. Joint disea se responds to corticosteroids, but these agents are not suitable for a dis ease that is lifelong. The eye involvement is aggressive and can lead to bl indness. These patients need close follow-up by an ophthalmologist.