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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
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.
Caractéristiques cliniques
Vésicules multiples, bullae et ulcères dans la muqueuse buccale et oropharyngée, les pennes internes, le plan dorsal du nez, l’abdomen ventral, les organes génitaux externes et les repose-pieds. Les symptômes sont reconnaissables peu de temps après la naissance. L’examen histologique montre la séparation à la jonction dermique-épidermique avec la formation de fissure.
Additional Information
Références
Pubmed ID: 12874109
Omia ID: 341