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Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Mutation
p.Glu392*
Test Type
Genetic Disease/Disorder
Details
The onset usually occurred between 10 weeks and 1 year of age. First described by Paradis (1992), affected dogs exhibit a painful thickening of the footpads with severe keratinous proliferations and fissures only at the ground contact locations similar to those observed in FNEPPK patients . . . . Cracks predispose the dogs to secondary infections, leading to lameness, causing the dog to be reluctant to walk. Nails did not seem to be affected . . . Similarly, no other cutaneous sign such as oral leukoplakia, cysts, or follicular keratosis was reported. (Plassais et al, 2015)
Details 2
The onset usually occurred between 10 weeks and 1 year of age. First described by Paradis (1992), affected dogs exhibit a painful thickening of the footpads with severe keratinous proliferations and fissures only at the ground contact locations similar to those observed in FNEPPK patients . . . . Cracks predispose the dogs to secondary infections, leading to lameness, causing the dog to be reluctant to walk. Nails did not seem to be affected . . . Similarly, no other cutaneous sign such as oral leukoplakia, cysts, or follicular keratosis was reported. (Plassais et al, 2015)
Published
Plassais, J., Guaguère, E., Lagoutte, L., Guillory, A.S., de Citres, C.D., 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). Journal of Investigative Dermatology 135:1187-1190, 2015. Pubmed reference: 25521457. DOI: 10.1038/jid.2014.526.
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