Scerri L, Cook L J, Jenkins E A, Thomas A L
Department of Dermatology, St Mary's Hospital, Portsmouth, UK.
Clin Exp Dermatol. 1996 Nov;21(6):445-8. doi: 10.1111/j.1365-2230.1996.tb00153.x.
Blau's syndrome refers to the rare familial presentation of a sarcoid-like granulomatous disease classically involving the skin, uveal tract and joints, in the absence of pulmonary manifestations. The onset is in childhood, and the mode of inheritance is thought to be autosomal dominant. We report a 15-year-old female and her 22-month-old daughter who presented with clinical features similar to those of Blau's syndrome. In addition to the skin, eye and joint disease, the mother also developed neurological involvement. In both patients long-term systemic corticosteroids were required to control the disease.
布劳氏综合征是指一种罕见的家族性类肉瘤样肉芽肿病，典型表现为累及皮肤、葡萄膜和关节，而无肺部表现。发病于儿童期，遗传方式被认为是常染色体显性遗传。我们报告了一名15岁女性及其22个月大的女儿，她们表现出与布劳氏综合征相似的临床特征。除皮肤、眼睛和关节疾病外，母亲还出现了神经系统受累。两名患者均需要长期使用全身性皮质类固醇来控制病情。
