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Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa 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 | |
| Chromosome | 7 |
| Mutation | c.202+1G>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | ED-SFS |
Informations générales
Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa 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.
Caractéristiques cliniques
Symptoms of Ectodermal Dysplasia in affected puppies 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.
Additional Information
Références
Pubmed ID: 22384142
Year published: 2012
Omia ID: 1864
Omia variant ID: 417