For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Focal non-epidermolytic palmoplantar keratoderma is a progressive condition characterized by dry and thickened footpads. The clinical signs include painful cracks and fissures on the footpads that may lead to secondary infections and lameness. Horny protrusions can be observed on all footpads. Affected dogs often avoid walking on rough surfaces. The clinical signs result from abnormal keratinous proliferation of skin cells. However, affected dogs do not exhibit epidermolytic changes and thus have normal nails and lack other cutaneous lesions. Typical onset of clinical signs occurs between 10 weeks and 1 year of age.
Dogs suffering from FNEPPK have a normal lifespan if the footpads and nails are cared for appropriately. Supportive treatment based on the dog's specific clinical signs is recommended and often involves moisturizing agents.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the FNEPPK mutation can be safely bred with a clear dog with no copies of the FNEPPK mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the FNEPPK mutation. A dog with two copies of the FNEPPK mutation can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the FNEPPK mutation could develop due to a different genetic or clinical cause.
All coordinates reference CanFam3.1
Plassais, J., Guaguère, E., Lagoutte, L., Guillory, A. S., De Citres, C. D., Degorce-Rubiales, F., … André, C. (2015). A Spontaneous KRT16 Mutation in a Dog Breed: A Model for Human Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK). Journal of Investigative Dermatology, 135(4), 1187–1190. View the article