Kim Woojoong, Park Eujin, Ahn Yo Han, Lee Jiwon M, Kang Hee Gyung, Kim Byung Joo, Ha Il-Soo, Cheong Hae Il
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
Korean J Pediatr. 2016 Nov;59(Suppl 1):S5-S9. doi: 10.3345/kjp.2016.59.11.S5. Epub 2016 Nov 30.
Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 () gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the gene in both siblings. The novel c.1439 A>G mutation in the NOD2 gene was found in a familial case of BS. Although BS is rare, it should always be considered in patients presenting with sarcoidosis-like features at a young age. Early diagnosis of BS and prompt multisystem workup including the eyes and joints can improve the patient's outcome.
布劳综合征（BS）是一种罕见的常染色体显性炎症综合征，其特征为肉芽肿性皮炎、对称性关节炎和复发性葡萄膜炎这一临床三联征。核苷酸寡聚化结构域2（NOD2）基因的突变导致布劳综合征。迄今为止，已在该基因中鉴定出多达30种与布劳综合征相关的基因突变。我们报告了一种导致布劳综合征的新型NOD2基因突变。一名8岁女孩及其10岁的哥哥出现了皮肤红斑和葡萄膜炎。妹妹的计算机断层血管造影显示有中主动脉发育异常综合征的特征。哥哥的关节受累比妹妹更明显。他们的父亲（38岁）也患有葡萄膜炎；然而，在他的病例中仅观察到轻微的皮肤受累。父亲的姑姑（39岁）及其女儿（13岁）先前被诊断为结节病。突变分析显示，两个兄弟姐妹的NOD2基因均存在一种新型的c.1439 A>G突变。在一例布劳综合征家族病例中发现了NOD2基因的新型c.1439 A>G突变。尽管布劳综合征罕见，但对于年轻时出现类似结节病特征的患者，应始终考虑到该病。布劳综合征的早期诊断以及包括眼睛和关节在内的多系统快速检查可以改善患者的预后。
