Focal Non-Epidermolytic Palmoplantar Keratoderma, FNEPPK

 

Gene: KRT16

Transmission: Autosomal, recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Complex deletion/insertion, KRT16 gene; c.1147_1148 del. + ins. CGGA ; c.1165 del.; p.9(V383R fs)

Medical system: Dermal

Breeds: American Staffordshire Terrier/Amstaff, Bordeaux Mastiff, Staffordshire Bull Terrier

Age of onset of symptoms: 4 to 9 months of age

Focal non-epidermolytic palmoplantar keratoderma (hereditary hyperkeratosis of the footpads) of the Bordeau Mastiff is a hereditary disease of the skin characterized by excessive keratin production (hyperkeratosis) of the footpads. Clinical signs start to be seen between 4 and 9 months of age and are progressive. Affected animals have thickening, hardening and cracking of the footpads which can lead to a painful gait. Footpads are predisposed to secondary yeast and/or bacterial infections; nails can also be affected. There is no definitive treatment for this disease but it can be managed by foot baths and antimicrobial treatments.

 

References:

OMIA link: [2088-9615]

NCBI link: [XM_548101]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Plassais J, Guaguère E, Lagoutte L, et al. (2015) A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). The Journal of investigative dermatology, 135(4), 1187. [pubmed/25521457]

Paradis M. (1992) Footpad hyperkeratosis in a family of Dogues de Bordeaux. Veterinary Dermatology, 3(2), 75-78.

 

Contributed by: Marine Rullier, Class of 2020, Faculty of Veterinary Medicine, University of Montreal.