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Papillon Lefevre Syndrome.

F Handa, R R Aggarwal, Adarsh Chopra

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    Summary
    This summary is machine-generated.

    This report details a rare case of Papillon-Lefevre syndrome, a genetic disorder. Early diagnosis and management are crucial for patients with this condition.

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    Area of Science:

    • Genetics
    • Dermatology
    • Oral Medicine

    Background:

    • Papillon-Lefevre syndrome is an autosomal recessive disorder.
    • Characterized by palmoplantar hyperkeratosis and periodontitis.

    Observation:

    • A case presentation of Papillon-Lefevre syndrome is described.
    • The report focuses on the clinical manifestations and diagnostic features.

    Findings:

    • The syndrome presents with severe, rapidly progressing periodontitis leading to premature tooth loss.
    • Distinctive skin changes, particularly hyperkeratosis on palms and soles, are observed.

    Implications:

    • Highlights the importance of recognizing rare genetic syndromes.
    • Emphasizes the need for multidisciplinary management involving dentists, dermatologists, and geneticists.
    • Contributes to the understanding of Papillon-Lefevre syndrome's clinical spectrum.