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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 typically necessary for affected dogs. This variant (ED-SFS), found in the Golden Retriever and Chesapeake Bay Retriever, is caused by a recessive mutation to the gene PKP1. The closely-related disorder Dystrophic Epidermolysis Bullosa is also found in the Golden Retriever.
Caratteristiche cliniche
Symptoms occur immediately after birth, with nose and footpads spontaneously sloughing (rubbing or sliding off). Exposed skin such as ear tips or skin will bleed or slough if licked by the mother or otherwise rubbed. Affected puppies also have finer, thinner fur.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 22384142
Omia ID: 1864