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Long-term change of disease behavior in Papillon-Lefèvre syndrome: seven years follow-up

Xinwen Wang1, Yang Liu2, Yuan Liu3

  • 1Department of Periodontology and Oral Medicine, School of Stomatology, State Key Laboratory of Military Stomatology, The Fourth Military Medical University, China.

European Journal of Medical Genetics
|December 16, 2014
PubMed

Insights

Papillon-Lefèvre syndrome (PLS), a genetic disorder causing severe periodontitis and skin issues, shows inflammation peaking in teenage years. Serum IgE levels correlate with this inflammation, offering a potential monitoring tool for this rare disease.

Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder.
  • It is characterized by severe periodontitis and palmoplantar hyperkeratosis.
  • Causative mutations are identified in the cathepsin C (CTSC) gene.

Observation:

  • This study followed four PLS patients with CTSC mutations over seven years.
  • Periodontal condition and serum immunoglobulin levels were systematically recorded.
  • The age-related progression of PLS has not been previously characterized.

Findings:

  • Periodontal inflammation in PLS patients peaked during teenage years.
  • Inflammation subsequently declined over time in the observed cohort.
  • Serum IgE levels demonstrated a pattern consistent with the observed periodontal inflammation changes.

Implications:

  • Serum IgE may serve as a potential biomarker for monitoring PLS inflammation.
  • Understanding age-related changes could inform therapeutic strategies for PLS.
  • Targeting IgE pathways might offer new avenues for PLS treatment.

Keywords:
Cathepsin CDisease behaviorIgEPLSPapillon-Lefèvre syndrome

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