DR. RAJASHREE EZHILAN

DR.R. RATHINAM SIVAKUMAR

Abstract

Blau syndrome is a rare inherited autosomal dominant disorder characterized by granulomatous polyarthritis, exanthematous rash and uveitis. This syndrome shares a common mutated gene with Early onset sarcoidosis ,namely (NOD 2).We report two cases ,8 y/M and 7 y/F, who presented with redness and defective vision ,with history of similar episodes in the past. Both had complaints of skin rash and joint pain. The male was diagnosed outside to have JIA with camptodactyly. On examination both had granulomatous panuveitis .Imaging was normal in both patients though the female had a past history of TB infection. Both were treated with topical and oral steroids, however the male child needed systemic immunosuppressant and intravitreal steroids due to severe inflammation and vision loss. His genetic analysis confirmed NOD 2 mutation. Extra triad manifestations are not very uncommon in Blau syndrome. Familiarity with this condition guides an ophthalmologist in early recognition and treatment.