肉芽肿性关节炎、虹膜炎和皮疹的布劳综合征：一个新家族及文献综述
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.
作者信息
Manouvrier-Hanu S, Puech B, Piette F, Boute-Benejean O, Desbonnet A, Duquesnoy B, Farriaux J P
机构信息
Consultation de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France.
出版信息
Am J Med Genet. 1998 Mar 19;76(3):217-21.
PMID:9508240
Abstract
Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.
摘要
布劳综合征（MK186580）包括肉芽肿性关节炎、虹膜炎和皮疹，是一种具有可变表达性的常染色体显性性状。迄今为止，已在5个家族中有所描述。我们报告了第六个眼部受累严重进展的家族，并讨论了与类似疾病如早发性婴儿结节病的疾病分类学。
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