Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene

We report a novel case of epidermolysis bullosa simplex with severe mucous membrane involvement and mutations in the plectin gene (PLEC1), The patient suffered from extensive blistering of the skin and oral and laryngeal muco us membranes. Electron microscopy of a lesional skin biopsy showed cleft fo rmation within the basal cell layer of the epidermis. Antigen mapping displ ayed entirely negative staining for plectin, a large (>500 kDa) multifuncti onal adhesion protein present in hemidesmosomes of the basal keratinocytes. Mutation analysis revealed compound heterozygous, previously undisclosed n onsense mutations, Q1713X and R2351X, of paternal and maternal origin, resp ectively, within exon 32 of PLEC1. Based on earlier reports, plectin defici ency is associated with late onset muscular dystrophy in patients with epid ermolysis bullosa. No signs of muscle weakness have been observed during th e 4 y follow-up of our patient. This case illustrates the fact that molecul ar pathological analyses have prognostic implications in identification and evaluation of patients who appear to be at risk for development of muscula r dystrophy later in life.