• Pediatric Infection and Vaccine
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• 제29권3호
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• pp.166-172
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• 2022

블라우증후군(Blau syndrome)은 nucleotide-binding oligomerization domain protein 2 (NOD2) 유전자의변이에 의해 발생하는 질환으로 육아종성 피부염 및 만성 포도막염, 관절염을 특징으로 한다. 증상이 비특이적이고 동시다발적으로 발생하지 않아 진단이 어려운 경우가 많다. 반복되는 피부 발진 및 발열에 대해 두 차례 가와사키병으로 오진되어 면역글로불린과 전신 스테로이드로 치료받은 바 있는 13개월 남자 환자에서 블라우 증후군을 진단한 증례를 보고하고자 한다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.5-9
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• 2016

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 (NOD2 ) 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 NOD2 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 NOD2 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.