title: Overview of epidermolysis bullosa.
abstract: Epidermolysis bullosa (EB) is classified into major types - EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) - on the basis of the level of tissue separation within the cutaneous basement membrane zone. Recent advances in research on EB have led to the identification of 10 genes responsible for EB. The Japanese Ministry of Health, Labor and Welfare has designated JEB and DEB, but not EBS, as specified diseases. However, EBS has a lethal variant and should also be registered as a specified disease. In the Third Consensus Meeting on the Diagnosis and Classification of EB held in Vienna in 2007, it was recommended that Kindler syndrome should be classified as a subtype of EB. Corrective gene therapy is the most ideal therapy for EB, but much more research is required before it can be developed and used in clinical practice. Cell-based therapies using fibroblasts and bone marrow cells have recently attracted considerable attention.
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. derma@cc.hirosaki-u.ac.jp
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Matsuzaki
mesh_terms: D001485:Basement Membrane / Q000473:pathology; D001768:Blister / Q000235:genetics* / Q000473:pathology; D004820:Epidermolysis Bullosa / Q000145:classification* / Q000235:genetics* / Q000628:therapy; D015316:Genetic Therapy; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D051190:Plectin / Q000235:genetics
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D051190:Plectin