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Hereditary epidermolytic palmoplantar keratoderma.

L G Blasik, R L Dimond, R D Baughman

    Archives of Dermatology
    |April 1, 1981
    PubMed
    Summary
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    This study details a family with autosomal dominant palmoplantar keratoderma, a skin condition causing thickened palms and soles. Pathological findings revealed epidermolytic hyperkeratosis, distinct from localized ichthyosis.

    Area of Science:

    • Dermatology
    • Genetics
    • Pathology

    Background:

    • Palmoplantar keratoderma (PPK) is a group of inherited skin disorders.
    • Epidermolytic hyperkeratosis is a specific histopathological finding associated with certain PPKs.
    • Autosomal dominant inheritance patterns are common in some forms of PPK.

    Observation:

    • A family with a high prevalence (11 of 20 members) of palmoplantar keratoderma was investigated.
    • Affected individuals presented with hyperkeratosis of the palms and soles from infancy.
    • Clinical and pathological data were collected from the proband and affected family members.

    Findings:

    • The proband exhibited pathological findings consistent with epidermolytic hyperkeratosis.
    • Light microscopy revealed hyperkeratosis, hypergranulosis, and distinctive clear spaces in the granular and upper spinous layers.

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  • Electron microscopy identified these clear spaces as cytoplasm filled with fibrillar material and organelles, alongside abnormal tonofilaments and keratohyalin.

    • Implications:

    • The disorder is inherited as an autosomal dominant trait within the family.
    • The findings support classifying this condition as a form of keratoderma, not a localized ichthyosis.
    • Understanding the ultrastructural pathology aids in differentiating this PPK from other genodermatoses.