Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK)

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Related Terms: Footpad Hyperkeratosis, KRT16, Pachyonychia Congenita

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

10 months to 1 year of age

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - Dogue de Bordeaux

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Footpads that touch the ground become extremely thickened and painful. There are keratinous proliferations and cracks that can become infected, leading to pain and lameness. Nails may grow faster and longer than in normal Dogue de Bordeaux. In some cases, the nose may also be affected. Hair, mucous membranes, and skin do not appear to be affected. A Dremel may be used to shave the footpad down to a manageable thickness to prevent cracking. Soaks may soften the footpads a bit and prevent secondary infections with bacteria and yeast.

Normal with good footpad care

Autosomal recessive

There is disruption of the KRT16 protein in the footpads that make ground contact. As many different keratins have highly defined roles in their interactions to regulate growth and cell proliferation, a defect in KRT16 results in a hyperkeratotic footpad that is rough like sandpaper and is caused by conically shaped papillae. In these areas, there are thin compact columns of parakeratotic cells and nearly absent underlying granular layer. These changes are not observed outside the areas where the footpad is touching the ground.

KRT16 and XM_548101.5:c.[1147_1148delinsCGGA;1163del]

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Plassais J, Guaguère E, Lagoutte L, Guillory AS, de Citres CD, Degorce-Rubiales F, Delverdier M, Vaysse A, Quignon P, Bleuart C, Hitte C, Fautrel A, Kaerle C, Bellaud P, Bensignor E, Queney G, Bourrat E, Thomas A, André C. A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). J Invest Dermatol. 2015 Apr;135(4):1187-1190. doi: 10.1038/jid.2014.526. Epub 2014 Dec 18. PMID: 25521457. Paradis M. Footpad hyperkeratosis in a family of Dogues de Bordeaux. Vet Dermatol. 1992 Jun;3(2):75-8. doi: 10.1111/j.1365-3164.1992.tb00148.x.