In other species: dog , taurine cattle , greater kudu

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 242500 (trait)

Single-gene trait/disorder: unknown

Mode of inheritance: Probably autosomal recessive

Disease-related: yes

Species summary: [IT thanks Emma Faull for contributions to this entry in September 2025]

Inheritance: Hazen et al. (2007) proposed that "affected male and female offspring, in the absence of affected parents, strongly suggested an autosomal-recessive pattern of inheritance".

Clinical features: Hazen et al. (2007) reported two cases of keratoderma in siblings, characterized by "profound thickening of the pad skin of all feet, generalized scaling of haired skin, and death within 7 weeks of out-of-pouch experience. The male also had depressed serum zinc levels. In addition, the male had, on electron microscopic exam of his skin, the presence of abnormal lipid deposits within the stratum corneum and stratum granulosum".

Pathology: Hazen et al. (2007): "biopsy from the trunk showed papillomatosis, hyperkeratosis, irregular acanthosis, and hypergranulosis ... Microscopic examination of the foot pads showed prominent and compact-to-laminated orthokeratotic hyperkeratosis. Focal areas of parakeratosis were noted, primarily within areas of epidermal fissuring. There was focal spongiosis at the lip of the follicular infundibulum. Inflammatory changes consisted of mild superficial perivascular mononuclear cells and were only focally noted ... . Post-mortem skin biopsy from the female demonstrated hyperkeratosis of both surface and follicular epithelia."