| Description | Protein which, if defective, causes hereditary palmoplantar keratoderma (PPK), a genetically and clinically diverse group of cutaneous disorders characterized by abnormal thickening of the skin on the palms and soles. It results from excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). PPKs are distinguished from each other on the basis of mode of inheritance, presence of transgrediens (defined as contiguous extension of hyperkeratosis beyond the palmar and/or plantar skin), association with other skin findings and/or abnormalities of other organs, and extent of epidermal involvement (diffuse, focal, punctate). Diffuse PPK is characterized by uniform involvement of the palmoplantar surface; focal PPK consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction; punctate PPK shows multiple small, hyperkeratotic papules or nodules on the palms and soles |
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