Yin Jinghua, Ren Yali, Lin Zhimiao, Wang Huijun, Zhou Yun, Yang Yong
Department of Dermatology, Peking University First Hospital, Beijing, China.
Int J Dermatol. 2015 Feb;54(2):185-7. doi: 10.1111/ijd.12655. Epub 2014 Sep 10.
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM 226670) is an autosomal recessive form of EBS, characterized by skin blistering at birth and delayed onset of muscle dystrophy. Mutations in PLEC, the gene encoding plectin, have been identified to be causal for EBS-MD. We report a case of EBS-MD with diffuse alopecia. Genetic study revealed the patient carrying compound heterozygous mutations in PLEC despite the consanguineous parentage.
伴有肌肉萎缩症的单纯性大疱性表皮松解症（EBS-MD；OMIM 226670）是EBS的一种常染色体隐性形式，其特征为出生时皮肤起泡以及肌肉萎缩症的延迟发作。已确定编码网蛋白的PLEC基因突变是EBS-MD的病因。我们报告了一例伴有弥漫性脱发的EBS-MD病例。基因研究显示，尽管父母是近亲，但该患者在PLEC基因中携带复合杂合突变。
