Palmoplantar keratoderma / FNEPPK1 (KRT16-related) - Dogue de Bordeaux

What does this test examine?

This genetic test analyses the KRT16 c.[1147_1148delinsCGGA;1165del] variant in Dogue de Bordeaux. The disorder is known as hereditary digital hyperkeratosis, hereditary footpad hyperkeratosis, HFH, palmoplantar hyperkeratosis, digital hyperkeratosis, focal nonepidermolytic palmoplantar keratoderma-1 and FNEPPK1. Hyperkeratosis means that the skin produces excessive keratin, especially on footpads where pressure and friction are high.

What does it mean for the dog?

Affected dogs develop thick, hard and painful footpads. The pads can become dry, form horn-like overgrowths and develop deep cracks. These fissures make walking painful and increase the risk of secondary infections. In young dogs this can become visible when they avoid hard or irregular surfaces, become lame or need repeated footpad care.

Practical value of this test

• Breeders can identify carriers before matings are planned.
• The result helps avoid carrier-to-carrier matings, preventing puppies with two copies of this variant.
• In puppies from risk lines, the test gives fast clarity when thickened or painful footpads appear.
• Owners receive useful information for footpad care, follow-up and breeding decisions.

The condition is inherited as an autosomal recessive trait. One copy makes a dog a carrier; two copies cause the genetic disease presentation for this variant.