Abstract：
UNASSIGNED: Blau syndrome is a rare familial autoinflammatory disorder characterized by the triad of granulomatous dermatitis, polyarthritis, and uveitis. Blau syndrome exhibits an autosomal dominant inheritance pattern and can be caused by a gain-of-function mutation in nucleotide-binding oligomerization domain 2 (NOD2), a member of the NOD-like receptor family of pattern recognition receptors. Mutations in NOD2 cause upregulation of inflammatory cytokines and resultant autoinflammation. Because of the rarity of this condition and early onset of symptoms, Blau syndrome may be misdiagnosed as juvenile idiopathic arthritis. We present a case of a 37-year-old male patient with a long-documented history of juvenile idiopathic arthritis and uveitis, who developed an asymptomatic eruption of pink papules on the trunk and upper extremities. A biopsy demonstrated noncaseating, well-formed dermal granulomas with relatively sparse lymphocytic inflammation and Langerhans-type giant cells. Genetic testing confirmed a mutation in NOD2. Based on the patient\'s clinical history, histologic findings, genetic testing, the diagnosis of Blau syndrome was made.
摘要：
■布劳综合征是一种罕见的家族性自身炎症性疾病，以肉芽肿性皮炎三联征为特征，多发性关节炎,还有葡萄膜炎.Blau综合征表现出常染色体显性遗传模式，可由核苷酸结合寡聚化结构域2（NOD2）中的功能获得突变引起，模式识别受体的NOD样受体家族成员。NOD2中的突变引起炎性细胞因子的上调和由此产生的自身炎症。由于这种情况的罕见和症状的早期发作，Blau综合征可误诊为幼年特发性关节炎。我们介绍了一例37岁的男性患者，有长期的青少年特发性关节炎和葡萄膜炎病史，在躯干和上肢出现无症状的粉红色丘疹。活检显示无病，形成良好的真皮肉芽肿，淋巴细胞性炎症和朗格汉斯型巨细胞。基因检测证实NOD2有突变。根据患者的临床病史,组织学发现，基因检测,诊断为布劳综合征。
