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Hereditary Footpad Hyperkeratosis (Dogue de Bordeaux Type)

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Test Overview:

Also called hereditary footpad hyperkeratosis (HFH) or digital hyperkeratosis.  This is a condition where there is abnormal development of the epidermis (the outer layer of the skin) of the footpad.  The footpads of an affected dog develop initially with a very smooth surface.  They then harden and continue to grow, with splits and lateral protrusions forming.  The fissures, or cracks that develop can cause pain and lameness, especially if they become infected.  In severe cases dogs may have trouble doing any walking at all. Footpad hyperkeratosis is first seen in dogs at around 4-6 months of age, with pups' footpads appearing normal at birth.  In the Irish setter, in addition to footpad lesions the nails may grow slightly faster than normal, and have a rounder than usual appearance.  Otherwise the rest of the skin is unaffected, however all footpads are affected. There is no cure for footpad hyperkeratosis.  Treatment involves footbath soaks, and filing away the excess keratin.  A prescribed cream can be applied to fissures, and antibiotics are used to control footpad  infections.  Most dogs will live happy, comfortable lives with continuous, ongoing management of their feet to control the signs of this disorder.

Category:

Dermatologic - Associated with the skin

Gene:

KRT16

Variant Detected:

Variant c.1147-1148delGT, ins[CGGA],c.1163delC, Protein - p.Glu392*

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://www.ncbi.nlm.nih.gov/pubmed/25521457

Associated Breed(s):

Dogue de Bordeaux,
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