Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia

Jinghua Yin; Yali Ren; Zhimiao Lin; Huijun Wang; Yun Zhou; Yong Yang

doi:10.1111/ijd.12655

Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia

Int J Dermatol. 2015 Feb;54(2):185-7. doi: 10.1111/ijd.12655. Epub 2014 Sep 10.

Authors

Jinghua Yin¹, Yali Ren, Zhimiao Lin, Huijun Wang, Yun Zhou, Yong Yang

Affiliation

¹ Department of Dermatology, Peking University First Hospital, Beijing, China.

PMID: 25209331
DOI: 10.1111/ijd.12655

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alopecia Areata / complications
Alopecia Areata / genetics*
Consanguinity
Epidermolysis Bullosa Simplex / complications
Epidermolysis Bullosa Simplex / genetics*
Female
Heterozygote
Humans
Muscular Dystrophies, Limb-Girdle / complications
Muscular Dystrophies, Limb-Girdle / genetics*
Mutation
Plectin / genetics*

Substances

PLEC protein, human
Plectin

Supplementary concepts

Diffuse alopecia
Epidermolysa bullosa simplex and limb girdle muscular dystrophy