title: Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.
abstract: 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 mucous membranes. Electron microscopy of a lesional skin biopsy showed cleft formation within the basal cell layer of the epidermis. Antigen mapping displayed entirely negative staining for plectin, a large (>500 kDa) multifunctional adhesion protein present in hemidesmosomes of the basal keratinocytes. Mutation analysis revealed compound heterozygous, previously undisclosed nonsense mutations, Q1713X and R2351X, of paternal and maternal origin, respectively, within exon 32 of PLEC1. Based on earlier reports, plectin deficiency is associated with late onset muscular dystrophy in patients with epidermolysis bullosa. No signs of muscle weakness have been observed during the 4 y follow-up of our patient. This case illustrates the fact that molecular pathological analyses have prognostic implications in identification and evaluation of patients who appear to be at risk for development of muscular dystrophy later in life.
authors.affiliation: Departments of Dermatology and Pediatrics, University of Würzburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Kunz
authors.forename: F
authors.initials: F
authors.lastname: Rouan
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: H
authors.initials: H
authors.lastname: Hamm
authors.forename: R
authors.initials: R
authors.lastname: Jeschke
authors.forename: L
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: E B
authors.initials: EB
authors.lastname: Bröcker
authors.forename: G
authors.initials: G
authors.lastname: Wiche
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: D
authors.initials: D
authors.lastname: Zillikens
mesh_terms: D001706:Biopsy; D002648:Child; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005091:Exons; D006801:Humans; D007381:Intermediate Filament Proteins / Q000172:deficiency / Q000235:genetics*; D008297:Male; D009092:Mucous Membrane; D010375:Pedigree; D051190:Plectin; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology
chemical_list: D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; D051190:Plectin