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Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
10 Arbeidsdager
Spesifikasjoner
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| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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| Chromosome | |
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Generell informasjon
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia on humane grounds is likely to be desirable. This variant, known as Recessive Dystrophic Epidermolysis Bullosa (RDEB), is caused by a recessive mutation to the gene COL7A1. This specific variant occurs in the Golden Retriever. Related versions of RDEB are found in the Central Asian Shepherd and the Basset Hound.
Kliniske egenskaper
Flere vesicles, bullae og sår i oral og oropharyngeal slimhinne, indre pinnae, dorsal plan av nesen, ventral mage, ytre kjønnsorganer og fotputer. Symptomene er gjenkjennelige kort tid etter fødselen. Histologisk undersøkelse viser separasjon ved dermal-epidermal knutepunkt med kløftdannelse.
Tilleggsinformasjon
Referanser
Pubmed ID: 12874109
Omia ID: 341