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Epidermolytic Hyperkeratosis
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Epidermolytic Hyperkeratosis
OMIA
1415
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Test Type
Genetic Disease/Disorder
Details
Epidermolytic Hyperkeratosis is a form of ichthyosis. Age of onset reported as adult dogs with the disease causing generalised dark pigmentation and fragile skin.
Details 2
Epidermolytic Hyperkeratosis is a form of ichthyosis. "Adult dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility." (Credille et al., 2005)
Published
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8, 2005. Pubmed reference: 16029326. DOI: 10.1111/j.1365-2133.2005.06735.x.
Published 2
Barnhart, KF., Credille, KM., Ambrus, A., Dunstan, RW. : Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol 14:481-90, 2005. Pubmed reference: 15946235. DOI: 10.1111/j.0906-6705.2005.00306.x.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Norfolk Terrier
