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Epidermolytic Hyperkeratosis (EHK) is a skin disorder that results in dark grey, flaky and fragile skin.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.1125+1G>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
Epidermolytic Hyperkeratosis (EHK) is a skin disorder that results in dark grey, flaky and fragile skin. This variant of the disease, found in the Norfolk Terrier, is caused by a recessive mutation to the gene KRT10.
Caractéristiques cliniques
Affected puppies are born with fragile skin that is easily shifted or sloughed. In development, the skin becomes flaky or scaly and dark grey, mostly in intertriginous areas (where skin surfaces fold or rub together). However, there is no notable change to footpads, hair, claws or teeth.
Additional Information
Références
Pubmed ID: 16029326
Year published: 2005
Omia ID: 1415
Omia variant ID: 364