Epidermolytic Hyperkeratosis (EHK) and Ichthyosis – Norfolk Terrier
Kodas: H363
Short description
Epidermolytic Hyperkeratosis (EHK) is a skin disorder that results in dark grey, flaky and fragile skin.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | KRT10 |
| Chromosome | 9 |
| Mutation | c.1125+1G>T |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
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.
References
Pubmed ID: 16029326
Year published: 2005
Omia ID: 1415
Omia variant ID:
Turnaround information
- 10 working days