Blau E B
J Pediatr. 1985 Nov;107(5):689-93. doi: 10.1016/s0022-3476(85)80394-2.
Eleven family members over four generations have had granulomatous disease of the skin, eyes, and joints. Ten have had arthritis; two had skin, eye, and joint involvement; one had skin and joint disease, and one had iritis only. The disease is transmitted as an autosomal dominant trait and is not associated with HLA-B27. The disease resembles sarcoidosis in some ways but not in others, and is probably a new syndrome. The major long-term problems are iritis and joint contractures.
四代家族中的11名成员患有皮肤、眼睛和关节的肉芽肿性疾病。10人患有关节炎;2人有皮肤、眼睛和关节受累;1人有皮肤和关节疾病,1人仅有虹膜炎。该疾病以常染色体显性性状遗传,与HLA - B27无关。这种疾病在某些方面类似于结节病,但在其他方面则不同,可能是一种新的综合征。主要的长期问题是虹膜炎和关节挛缩。