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Diffuse palmoplantar keratoderma with deafness.

A Hatamochi, S Nakagawa, H Ueki

    Archives of Dermatology
    |August 1, 1982
    PubMed
    Summary
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    This study identifies a rare genetic disorder combining diffuse palmoplantar keratoderma (Thost-Unna type) with deafness in a family. Autosomal dominant inheritance suggests a new variant of keratoderma, impacting skin and hearing.

    Area of Science:

    • Genetics
    • Dermatology
    • Otolaryngology

    Background:

    • Diffuse palmoplantar keratoderma (Thost-Unna type) is a rare skin condition.
    • Deafness can be associated with certain genetic disorders.
    • Understanding the genetic basis of combined conditions is crucial for diagnosis.

    Observation:

    • Two brothers presented with diffuse palmoplantar keratoderma (Thost-Unna type) and sensorineural hearing loss.
    • Genetic analysis of 38 family members revealed five with similar dermatosis and ten with isolated hearing loss.

    Findings:

    • The inheritance pattern of the dermatosis was determined to be autosomal dominant.
    • This presentation is distinguished from other genodermatoses associated with keratinization defects and deafness.
    • This case represents the second report of diffuse palmoplantar keratoderma (Thost-Unna type) with deafness, suggesting a novel variant.

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    Implications:

    • This finding expands the known spectrum of genodermatoses.
    • It highlights the importance of considering hearing assessments in patients with palmoplantar keratoderma.
    • Further research into the specific genetic mutations may elucidate the underlying pathomechanisms.