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 German Shepherd, a de novo genetic variant of the ASPRV1 gene has been identified as potential cause of ichthyosis. The affected dog showed typical symptoms of ichthyosis shortly after birth: severe scaling of the skin, mild pruritus, generalized hypotrichosis and focal areas of alopecia with severe greyish scaling and mild erythema, as well as comedones on the ventral abdomen. The symptoms improved under treatment with special rehydrating sprays or shampoos. The genetic variant is inherited in an autosomal dominant manner.
German Shepherd
| Test number | Only available in LABOGeneticsXXL – Dog |
| Inheritance | autosomal-dominant |
| Gene | ASPRV1 |
| Mutation | A-G |
| Literature | OMIA:002099-9615 |
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