epidermolysis bullosa dystrophica

epidermolysis bullosa dystrophica
epidermolysis bullosa caused by mutations in the COL7A1 gene (locus: 3p21.3), which encodes type VII collagen, characterized by blistering beneath the lamina densa, with atrophy of previously blistered areas, severe scarring after healing, and dystrophy or absence of the nails. Inheritance may be autosomal dominant or recessive; see dominant e. bullosa dystrophica and recessive e. bullosa dystrophica. Called also dystrophic e. bullosa.

Medical dictionary. 2011.

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  • Epidermolysis bullosa dystrophica — Infobox Disease Name = PAGENAME Caption =An eighteen month old toddler with DEB. DiseasesDB = 29580 ICD10 = ICD10|Q|81|2|q|80 ICD9 = ICD9|757.39 ICDO = OMIM = 131750 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D016108 Epidermolysis… …   Wikipedia

  • dominant epidermolysis bullosa dystrophica — dominant dystrophic epidermolysis bullosa a group of relatively mild autosomal dominant forms of epidermolysis bullosa dystrophica. There are two main variants: The more severe Pasini or albopapuloid variant is usually present at birth or in… …   Medical dictionary

  • recessive epidermolysis bullosa dystrophica — recessive dystrophic epidermolysis bullosa the autosomal recessive forms of epidermolysis bullosa dystrophica; these tend to be more severe than the dominant forms. Most are characterized by extensive denuded hemorrhagic erosions and blisters on… …   Medical dictionary

  • Epidermolysis bullosa — (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. The condition was brought to public attention in the UK through the… …   Wikipedia

  • epidermolysis bullosa — epidermolysis bul·lo·sa bə lō sə n any of a group of inherited disorders of variable severity marked esp. by the formation of large fluid filled blisters which develop chiefly in response to minor mechanical trauma see dystrophic epidermolysis… …   Medical dictionary

  • Epidermolysis bullosa — (EB) ist eine genetisch bedingte Hautkrankheit, die je nach Subtyp autosomal dominant oder rezessiv vererbt wird. Ursache ist ein angeborene Mutation in bestimmten Genen, deren Genprodukte (Proteine) u. a. für den intakten zellulären Aufbau der… …   Deutsch Wikipedia

  • dystrophic epidermolysis bullosa — n any of several forms of epidermolysis bullosa that are marked esp. by blister formation between the basement membrane and lamina propria often accompanied by scarring and sometimes involvement of the mucous membranes (as of the mouth or… …   Medical dictionary

  • epidermolysis — A condition in which the epidermis is loosely attached to the corium, readily exfoliating or forming blisters. [epidermis + G. lysis, loosening] e. bullosa [MIM*131800] a group of inherited chronic noninflammatory skin diseases in which large… …   Medical dictionary

  • EBD — epidermolysis bullosa dystrophica …   Medical dictionary

  • EBD — • epidermolysis bullosa dystrophica …   Dictionary of medical acronyms & abbreviations

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