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Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia
Author(s) -
Yin Jinghua,
Ren Yali,
Lin Zhimiao,
Wang Huijun,
Zhou Yun,
Yang Yong
Publication year - 2015
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12655
Subject(s) - epidermolysis bullosa simplex , medicine , compound heterozygosity , epidermolysis bullosa , dermatology , mutation , muscular dystrophy , genetics , gene , biology
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.