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.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • 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

  • 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

  • Nonsyndromic deafness — is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of… …   Wikipedia

  • Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or …   Wikipedia

  • Otospondylomegaepiphyseal dysplasia — Classification and external resources OMIM 215150 DiseasesDB 32024 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive …   Wikipedia

  • Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”