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Reticulate pigmented anomaly of the flexures. Case reports and genetic investigation

W G Brown

    Archives of Dermatology
    |July 1, 1982
    PubMed

    Insights

    Reticulate pigmented anomaly of the flexures is a rare genodermatosis causing hyperpigmented macules in skin folds. Family studies suggest it is inherited in an autosomal dominant pattern with variable expression.

    Area of Science:

    • Dermatology
    • Medical Genetics

    Background:

    • Reticulate pigmented anomaly of the flexures (RPAF) is a rare genodermatosis.
    • It presents as punctate, hyperpigmented macules primarily affecting flexural areas.

    Observation:

    • A family study identified six affected members with RPAF.
    • This observation provided an opportunity to analyze the inheritance pattern.

    Findings:

    • Histopathology reveals acanthosis, follicular infundibulum keratinization, and filiform epidermal downgrowths.
    • Genetic analysis indicates an autosomal dominant inheritance pattern for RPAF.

    Implications:

    • RPAF exhibits variable penetrance, expressivity, and potentially delayed onset.
    • Understanding the genetic basis aids in diagnosis and genetic counseling for affected families.

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