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Papillon-lefevre Syndrome.

Mohan B Gharpuray, D J Patil, S N Tolat

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    Papillon-Lefevre syndrome presents with varied symptoms across families. Etretinate treatment showed positive results in two patients with this rare genetic disorder.

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    Area of Science:

    • Genetics
    • Dermatology
    • Oral Medicine

    Background:

    • Papillon-Lefevre syndrome is a rare autosomal recessive disorder.
    • Characterized by palmoplantar hyperkeratosis and periodontitis.
    • Genetic basis involves mutations in the CTSC gene.

    Observation:

    • Five cases from two families were analyzed.
    • Clinical presentations exhibited significant variability.
    • Two patients received etretinate for treatment.

    Findings:

    • Variable clinical manifestations of Papillon-Lefevre syndrome were observed.
    • Etretinate demonstrated a good therapeutic response in two affected individuals.
    • This suggests potential efficacy of retinoids in managing the syndrome.

    Implications:

    • Highlights the diverse clinical spectrum of Papillon-Lefevre syndrome.
    • Suggests etretinate as a viable treatment option.
    • Further research is warranted to explore long-term efficacy and optimal dosing.