junctional epidermolysis bullosa
- junctional epidermolysis bullosa
junctional epidermolysis bullosa n any of several forms of epidermolysis bullosa that are marked esp. by usu. severe blister formation between the epidermis and basement membrane often accompanied by involvement of the mucous membranes (as of the mouth or esophagus) and that are inherited as an autosomal recessive trait
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a genetically heterogeneous, autosomal recessive type of epidermolysis bullosa, caused by mutations in genes that encode the subunits of laminin 332. It is characterized by severe generalized blistering in the lamina lucida, affecting the head, trunk, or lower limbs. Extensive denudation may cause secondary infection and death from septicemia. The more severe Herlitz type (e. bullosa letalis, Herlitz disease) is caused by null mutations that result in a complete lack of laminin 332 in the skin; lesions are present at birth and death often occurs in infancy. The milder non-Herlitz type is caused by missense mutations and may also be caused by mutations in the COL17A1 gene (locus: 10q24.3), which encodes type XVII collagen; it is often present at birth but sometimes does not manifest until early adulthood. Called also e. bullosa junctionalis.
Medical dictionary.
2011.
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epidermolysis bullosa junctionalis — junctional e. bullosa … 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 letalis — the Herlitz type of junctional e. bullosa … 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
JEB — junctional epidermolysis bullosa … Medical dictionary
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