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Papillon-Lefèvre syndrome.

R K Landow, H Cheung, M Bauer

International Journal of Dermatology

|April 1, 1983

Summary

This summary is machine-generated.

Papillon-Lefèvre syndrome patients experience premature tooth loss and skin issues. Involved gingival fibroblasts show doubled protein and collagen synthesis compared to normal tissues.

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Area of Science:

Genetics and Molecular Biology
Dermatology
Oral Medicine

Background:

Papillon-Lefèvre syndrome is a rare genetic disorder characterized by palmoplantar hyperkeratosis and periodontitis.
The syndrome follows an autosomal recessive inheritance pattern, with unknown specific etiologic factors.
Current treatments focus on dental hygiene, as dermatologic therapies are often ineffective.

Observation:

A patient with Papillon-Lefèvre syndrome presented with characteristic premature loss of deciduous and permanent teeth and palmar/plantar hyperkeratosis.
Additional clinical manifestations included psoriasiform hyperkeratosis, falx calcification, and recurrent infections.
Fibroblasts were isolated from gingival tissues of affected individuals and compared to controls.

Findings:

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Fibroblasts from the gingiva involved in Papillon-Lefèvre syndrome exhibited significantly elevated protein synthesis.

Collagen synthesis was also markedly increased, approximately double that observed in uninvolved or control gingival fibroblasts.

This suggests a distinct molecular profile in the affected gingival tissue.

Implications:

The heightened protein and collagen synthesis in gingival fibroblasts may contribute to the pathogenesis of periodontitis in Papillon-Lefèvre syndrome.
Understanding these molecular differences could pave the way for targeted therapeutic strategies.
Further research into the regulatory mechanisms of protein and collagen synthesis in this condition is warranted.