title: [From gene to disease; epidermolysis bullosa due to mutations in proteins in or around the hemidesmosome].
abstract: Epidermolysis bullosa is a group of hereditary mechanobullous dermatoses in which detachment of the skin and mucosa in or around the epidermal basement membrane takes place from birth on. The clinical manifestations vary from abnormalities in the nails to painful mutilation of the skin, eyes, mouth, throat, oesophagus and locomotor apparatus. Ten genes have been identified that can cause a form of epidermolysis bullosa. These genes code for proteins in or around the hemidesmosome, the site of anchorage of the basal cell to the basement membrane. The prevalence of epidermolysis bullosa is about 1 in 22,000. The diagnosis is on the basis of the medical history, clinical findings, immunofluorescence microscopy, electron microscopy and DNA studies. The current treatment is still primarily symptomatic and prophylactic.
authors.affiliation: Academisch Ziekenhuis, afd. Dermatologie, Centrum voor Blaarziekten, Hanzeplein 1, 9713 GZ Groningen. m.f.jonkman@derm.azg.nl
authors.forename: M F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: H F
authors.initials: HF
authors.lastname: Rulo
authors.forename: J C
authors.initials: JC
authors.lastname: Duipmans
mesh_terms: D001485:Basement Membrane / Q000473:pathology; D003896:Desmosomes / Q000737:chemistry*; D004817:Epidermis / Q000473:pathology; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008854:Microscopy, Electron; D009154:Mutation; D011506:Proteins / Q000235:genetics; D012867:Skin / Q000473:pathology
chemical_list: D011506:Proteins