recessive epidermolysis bullosa dystrophica
- 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 all body surfaces (including mucous membranes) at birth or in early infancy. Lesions in the esophagus heal to leave esophageal strictures that can impair feeding; other healed lesions can restrict mobility by causing syndactyly and sometimes flexion contractures. Called also Hallopeau-Siemens syndrome.
Medical dictionary.
2011.
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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
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
Hallopeau-Siemens syndrome — recessive epidermolysis bullosa dystrophica … Medical dictionary
Hallopeau-Siemens syndrome — Hal·lo·peau Sie·mens syndrome (ah lo poґ seґmənz) [F.H. Hallopeau; Hermann Werner Siemens, German dermatologist, 1891–1969] recessive epidermolysis bullosa dystrophica; see under epidermolysis … Medical dictionary
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