Dominant dystrophic epidermolysis bullosa

Dominant dystrophic epidermolysis bullosa
Dominant dystrophic epidermolysis bullosa
Classification and external resources
DiseasesDB 33249

Dominant dystrophic epidermolysis bullosa (also known as "Cockayne-Touraine disease") is a skin condition characterized by vesicles and bullae on the extensor surfaces of the extremities.[1]:558[2]:601

See also


  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.

and related
JEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)
related: Costello syndrome · Kindler syndrome · Laryngoonychocutaneous syndrome · Skin fragility syndrome ·

cadherin (EEM syndrome· immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa· Hailey–Hailey

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

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Look at other dictionaries:

  • 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

  • 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

  • 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… …   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

  • COL7A1 — Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive), also known as COL7A1, is a human gene. PBB Summary section title = summary text = This gene encodes the alpha chain of type VII collagen. The type VII… …   Wikipedia

  • Collagen, type VII, alpha 1 — Identifiers Symbols COL7A1; EBD1; EBDCT; EBR1 External IDs …   Wikipedia

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  • Dermatopathia pigmentosa reticularis — Classification and external resources OMIM 125595 Dermatopathia pigmentosa reticularis (also known as Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans, Dermatopathia pigmentosa reticularis hypohidotica et atrophica, and… …   Wikipedia

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