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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.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
Vescicole multiple, bulle e ulcere nella mucosa orale e orofaringea, pinna interna, piano dorsale del naso, addome ventrale, genitale esterno e pedane. I sintomi sono riconoscibili subito dopo la nascita. L'esame istologico mostra la separazione alla giunzione dermica-epidermica con formazione di fenditure.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 12874109
Omia ID: 341