title: Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
abstract: 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.
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China.
authors.forename: Jinghua
authors.initials: J
authors.lastname: Yin
authors.forename: Yali
authors.initials: Y
authors.lastname: Ren
authors.forename: Zhimiao
authors.initials: Z
authors.lastname: Lin
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Zhou
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000328:Adult; D000506:Alopecia Areata / Q000150:complications / Q000235:genetics*; D003241:Consanguinity; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics*; D009154:Mutation; D051190:Plectin / Q000235:genetics*
chemical_list: C495332:PLEC protein, human; D051190:Plectin