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[Papillon-lefèvre syndrome].

A Krebs

    Dermatologica
    |January 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Papillon-Lefèvre syndrome, a rare genetic disorder, caused severe palmoplantar keratoderma and aggressive periodontitis in a 13-year-old boy. Despite consanguinity in his family history, no other cases were identified, highlighting the syndrome

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    Area of Science:

    • Genetics
    • Dermatology
    • Pediatrics

    Background:

    • Papillon-Lefèvre syndrome is a rare autosomal recessive disorder.
    • Characterized by palmoplantar hyperkeratosis and periodontitis.
    • Genetic factors and consanguinity can play a role in its manifestation.

    Observation:

    • A case of Papillon-Lefèvre syndrome in a 13-year-old boy is presented.
    • The patient exhibited palmoplantar keratoderma since infancy and severe juvenile periodontitis.
    • Family history revealed consanguinity but no other affected individuals.

    Findings:

    • The palmoplantar keratoderma varied in severity, worsening with seasons and fever.
    • Severe periodontitis led to the loss of all deciduous and permanent teeth.
    • The patient required a total prosthesis by age 14, with unsuccessful treatments.

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    Implications:

    • This case underscores the phenotypic variability of Papillon-Lefèvre syndrome.
    • Highlights the importance of early diagnosis and genetic counseling.
    • Emphasizes the challenges in managing severe periodontitis associated with the syndrome.