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Ichthyosis - Chihuahua

General description

The skin provides both an outward and inward barrier function, which is essential for survival. The skin undergoes a constant process of self-renewing. Stem cells are located in the basal layer of the epidermis, which differentiate into the horn-forming keratinocytes. These migrate to the uppermost layer of the epidermis, the stratum corneum, and form the keratin. Ichthyosis is a group of inherited cornification disorders with symptoms like dry skin, scaling, hyperkeratosis and erythroderma.

In the breed Chihuahua, a genetic variant of the SDR9C7 gene has been identified as potential cause of ichthyosis. This gene encodes for an enzyme that is involved in the production of the so-called corneocyte lipid envelope (CLE), a crucial component of the epidermal barrier. The affected dog showed typical symptoms of ichthyosis shortly after birth: abnormal scale formation all over the haircoat, moderate pruritus, mild erythema and malodorous skin. The genetic variant is inherited in an autosomal recessive manner.

Breeds

Chihuahua

Test number Only available in LABOGeneticsXXL – Dog
Inheritance autosomal-recessive
Gene SDR9C7
Mutation G-A
Literature OMIA:002659-9615