Pastores G M, Michels V V, Stickler G B, Su W P, Nelson A M, Bovenmyer D A
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
J Pediatr. 1990 Sep;117(3):403-8. doi: 10.1016/s0022-3476(05)81080-7.
In 1985, Blau reported a family with 11 members in four generations affected by granulomatous arthritis, iritis, skin rash, and periarticular synovial cysts. We report a second family with these abnormalities, thereby confirming this syndrome as a distinct familial entity with transmission compatible with autosomal dominant inheritance. Affected members in our family included a mother and two daughters. Disease onset was at 10 months to 8 years of age. Each had uveitis, symmetric polyarthritis, and synovial cysts overlying the ankle and wrist joints. In addition, both daughters had an intermittent generalized erythematous papular rash that on biopsy revealed noncaseating granulomatous infiltration. All three patients improved during alternate-day steroid therapy. Recognition of this disorder as distinct from other, more common causes of arthritis is important because of the apparent autosomal dominant transmission and because of the excellent responses to low-dose steroid therapy.
1985年，布劳报告了一个四代共11名成员的家族，他们患有肉芽肿性关节炎、虹膜炎、皮疹和关节周围滑膜囊肿。我们报告了另一个有这些异常症状的家族，从而证实这种综合征是一种独特的家族性疾病，其遗传方式符合常染色体显性遗传。我们家族中的患病成员包括一位母亲和两个女儿。发病年龄在10个月至8岁之间。每个人都患有葡萄膜炎、对称性多关节炎以及踝关节和腕关节上方的滑膜囊肿。此外，两个女儿都有间歇性全身性红斑丘疹皮疹，活检显示为非干酪样肉芽肿浸润。所有三名患者在隔日类固醇治疗期间病情都有所改善。认识到这种疾病与其他更常见的关节炎病因不同很重要，这是因为其明显的常染色体显性遗传以及对低剂量类固醇治疗有良好反应。
