dominant epidermolysis bullosa dystrophica

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 infancy, and is characterized by extensive blistering that heals to leave atrophic scarring and albopapuloid lesions, primarily on the skin over the joints and limbs but sometimes elsewhere; and frequent involvement of the mucous membranes, including the oral, esophageal, and pharyngeal mucosa. The less severe Cockayne-Touraine (dysplastic or hyperplastic) variant usually occurs in infancy or early childhood and is characterized by keratotic lesions that may show ichthyotic changes, generally confined to the extremities, which may heal with hypertrophic rather than atrophic scars. See also Bart syndrome, under 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

  • 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) 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

  • transient bullous dermolysis of newborn — a rare form of dominant epidermolysis bullosa dystrophica that occurs in newborns but clears up around six months of age …   Medical dictionary

  • albopapuloid lesions — the white scarlike lesions characteristic of one type of dominant epidermolysis bullosa dystrophica …   Medical dictionary

  • EBDD — epidermolysis bullosa dystrophica dominant …   Medical dictionary

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

  • List of diseases (E) — A list of diseases in the English wikipedia.DiseasesTOC Ea Eb* EAF * Eales disease * Ear, patella, short stature syndrome * Earlobes thickened conductive deafness * Ebola hemorrhagic fever * Ebstein s anomalyEcEcc Ecp* Eccentrochondrodysplasia *… …   Wikipedia

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