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Ichthyosis (Norfolk Terrier)

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Test Overview:

Dog ichthyosis a hereditary, monogenic, cornification disorder, appearing early and persisting for life. Cornification disorders form a heterogeneous group of diseases characterised by abnormal differentiation (cornification) of the epidermis. Theichthyoses, a member of this group, are distinguishable clinically by generalised scaling and histopathologically, in most cases, by a thickened stratum corneum. In veterinary medicine, ichthyosis is now commonly classified into either epidermolytic or non-epidermolytic subtypes. Most reported cases in dogs are non-epidermolytic with heterogeneous clinical, histopathological and ultrastructural profiles.

Category:

Dermatologic - Associated with the skin

Gene:

Keratin 10 (KRT10) on Chromosome 9

Variant Detected:

Base Substitution c.1125 + 1 G>T p. exon5/intron5 splice site

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Credille KM, et al. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.(2005) Br J Dermatol, 153;51-58.

Associated Breed(s):

Mixed Breed, Norfolk Terrier ,

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