Epidermolytic Hyperkeratosis

General Information: Epidermolytic Hyperkeratosis (EHK) is a congenital skin condition that manifests in dogs from birth. Affected puppies may experience skin blistering and sloughing with minor physical contact or friction, such as when being dried after birth. As affected dogs grow older, their skin tends to become excessively flaky and abnormally dark (hyperpigmented), particularly in areas where skin surfaces rub together. Despite the extensive skin issues, the footpads, claws, teeth, and hair generally remain unaffected. The condition can lead to significant discomfort and may require ongoing veterinary care to manage symptoms effectively.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Epidermolytic Hyperkeratosis (EHK) focuses on identifying mutations in the KRT10 gene, which is crucial for the structural stability of keratin in the skin. This condition is inherited in an autosomal recessive pattern, meaning that a dog needs to inherit two copies of the mutated gene—one from each parent—to exhibit symptoms of EHK. Carriers of only one copy of the mutation do not show symptoms but can pass the mutation to their offspring. Breeding decisions should be informed by genetic testing: mating two carriers can result in 25% of the offspring being affected and 50% being carriers. To prevent the propagation of this disorder, it is advised that carriers not be bred together. Regular testing helps breeders avoid producing affected puppies and manage the condition within the breeding population effectively.