title: Hereditary epidermolysis bullosa.
abstract: The term epidermolysis bullosa (EB) includes a group of rare genodermatoses characterized by mutational impairment of the structural and functional integrity of intraepidermal adhesion and dermoepidermal anchorage. Clinically, these disorders are marked by increased skin fragility as well as characteristic mechanically inducible blisters on the skin and mucous membranes. Extracutaneous manifestations and their complications in other epithelialized organs render EB a multi-system disease associated with significant morbidity and mortality. Cornerstones of a dynamically changing healthcare structure include precise and early diagnosis; coordinated, multidisciplinary, individually adjusted patient care at specialized centers; optimized symptomatic therapies; and access to research-based, potentially curative therapeutic strategies.
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Martin
authors.initials: M
authors.lastname: Laimer
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Christine
authors.initials: C
authors.lastname: Prodinger
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
mesh_terms: D003937:Diagnosis, Differential; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D019317:Evidence-Based Medicine; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D012867:Skin / Q000473:pathology*; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers