title: Molecular basis of inherited skin-blistering disorders, and therapeutic implications.
abstract: Epidermolysis bullosa (EB) and associated skin-fragility syndromes are a group of inherited skin diseases characterised by trauma-induced blistering of the skin and mucous membranes. Mutations in at least 14 distinct genes encoding molecular components of the epidermis or the dermal-epidermal junction (DEJ) can cause blistering skin diseases that differ by clinical presentation and severity of the symptoms. Despite great advances in discerning the genetic basis of this group of diseases, the molecular pathways leading to symptoms are not yet fully understood. Unravelling these pathways by molecular analysis of the structure and in vitro assessment of functional properties of the human proteins involved, combined with genetic models in lower organisms, should pave the way for specific cures for inherited skin fragility.
authors.affiliation: Center for Biochemistry, Medical Faculty, and Center for Molecular Medicine Cologne, University of Cologne, Germany. aumailley@uni-koeln.de
authors.forename: Monique
authors.initials: M
authors.lastname: Aumailley
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.forename: Lucy
authors.initials: L
authors.lastname: Tunggal
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
mesh_terms: D000818:Animals; D001768:Blister / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D020405:Dermis / Q000473:pathology / Q000648:ultrastructure; D004817:Epidermis / Q000473:pathology / Q000648:ultrastructure; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000628:therapy; D006801:Humans; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy*