title: Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.
abstract: The cutaneous basement membrane zone (BMZ) is a highly specialized functional complex that provides the skin with structural adhesion and resistance to shearing forces. Its regulatory functions include control of epithelial-mesenchymal interactions under physiological and pathological conditions. Mutations in genes encoding components of the BMZ are associated with inherited skin disorders of the epidermolysis bullosa (EB) group, characterized by skin fragility, mechanically induced blisters and erosions of the skin and mucous membranes. Although most disease-associated genes are known, the genetic basis of new EB subtypes linked to mutations in genes for focal adhesion proteins was uncovered only recently. The molecular mechanisms leading to blistering, abnormal wound healing, predisposition to skin cancer, and other complications in EB have been elucidated using animal models and disease proteomics. The rapid progress in understanding the molecular basis of EB has enabled the development of strategies for biologically valid causal therapies.
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Germany; Freiburg Institute for Advanced Studies, School of Life Sciences - LifeNet, Freiburg, Germany. Electronic address: bruckner-tuderman@uniklinik-freiburg.de.
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Germany.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D000818:Animals; D001485:Basement Membrane / Q000378:metabolism / Q000473:pathology*; D002448:Cell Adhesion; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000473:pathology*
chemical_list: D016326:Extracellular Matrix Proteins
keywords: Adhesion; Blister; Cell–matrix adhesion; Dermal–epidermal junction; Kindler syndrome; Skin fragility