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

[epidermolysis bullosa simplex]

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 .