By Gary M. White, MD
Blau syndrome is a systemic granulomatous disorder and is now felt to be synonymous with early onset sarcoidosis as both are caused by gain-of-function mutations in NOD2/CARD15.
Potential internal involvement includes generalized lymphadenopathy, interstitial lung disease, pericarditis, hepatomegaly, splenomegaly, interstitial nephritis, renal calcification, hypertension, pulmonary embolism, leukocytoclastic vasculitis, and large-vessel vasculitis. Recurrent fever is also frequently observed in patients with BS.
The skin changes may be eczematous, ichthyosiform, or lichenoid (papules)--with granulomas on biopsy. One otherwise healthy infant patient was described as having "a generalized pink-red eruption of grouped, 1-3 mm tapioca-grain papules [JAMA Derm 2017;153;1066].
Two patients have been reported to respond dramatically to oral erythromycin within 1-3 months [JAMA Derm 2017;153;1066]. Doses were 40-45 mg/kg/day given either BID or TID. Systemic corticosteroids, methotrexate, and biologic agents have been tried.
A 5-year-old boy presents with "eczema" that started at 2.5 years of age as well as arthritis. He had also developed edema and mild pain of his wrists, knees, and ankles---diagnosed as "juvenile rheumatoid arthritis". He failed his kindergarten visual screening examination. Dermatology Online Journal 15(12)
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