一名患有新的ATP2C1基因突变的婴儿患黑汗性棘皮症的病例。
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation.
作者信息
Xu Zhe, Zhang Lixin, Xiao Yuanyuan, Li Li, Lin Zhimiao, Yang Yong, Ma Lin
机构信息
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
出版信息
Pediatr Dermatol. 2011 Mar-Apr;28(2):165-8. doi: 10.1111/j.1525-1470.2010.01088.x.
Familial benign chronic pemphigus or Hailey-Hailey disease (OMIM 169600) is an autosomal-dominant blistering disease. Here we present a rare case of familial benign chronic pemphigus in a Chinese infant. The 5-month-old proband, who showed diffusely distributed skin lesions, is the youngest patient of Hailey-Hailey disease ever reported. The detection of an ATP2C1 gene mutation in this infant confirmed the diagnosis. His mother carried the same mutation, but with no history of skin lesions.
家族性良性慢性天疱疮或黑利-黑利病（OMIM 169600）是一种常染色体显性遗传性水疱病。在此，我们报告1例中国婴儿患家族性良性慢性天疱疮的罕见病例。该5个月大的先证者皮肤损害广泛分布，是有报道以来最年幼的黑利-黑利病患者。对该婴儿进行ATP2C1基因突变检测确诊了该病。其母亲携带相同突变，但无皮肤损害病史。
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