Genetic Test
The KRT10 gene encodes keratin 10, a protein predominantly expressed in the upper layers of the epidermis, specifically the spinous and granular layers.
Keratin proteins play a critical role in maintaining cytoskeletal integrity and protecting the skin against external insults.
Mutations in KRT10 weaken the adhesion between keratinocytes and impair normal epidermal maturation, leading to hyperkeratosis and blister formation.
Disease Description
Epidermolytic hyperkeratosis is a rare genetic disorder caused by mutations in the KRT10 gene, resulting in instability of keratin proteins essential for skin keratinization.
Affected dogs develop excessive skin thickening with scale-like, thickened keratin layers that are prone to cracking and blistering.
Clinical signs include pain, pruritus (itching), and secondary infections.
In severe cases, mobility and daily activities may be significantly impaired due to skin discomfort.
