Abstract：
Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established. This case report depicts a 54-year-old male Chinese patient presenting with hand malformation, fever, skin rash and joint pain. His diagnosis was ultimately confirmed according to typical medical history and genetic analysis. This case report will further help clinicians to be aware of this rare clinical entity for correct diagnosis and proper treatment.
摘要：
布劳综合征(Blausyndrome,BS)是一种罕见的遗传性免疫性疾病,常见于儿童时期。目前,BS诊断漏诊率很高,并且尚未建立有效的BS临床管理。该病例报告描述了一名54岁的男性中国患者，表现为手部畸形，发烧,皮疹和关节痛。根据典型的病史和遗传分析，最终证实了他的诊断。此病例报告将进一步帮助临床医生了解这种罕见的临床实体，以进行正确的诊断和适当的治疗。
