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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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Published on: March 23, 2022

Papillon-Lefèvre syndrome: a case report.

A R Pradeep¹, Sujatha B Pai

¹Department of Periodontics, Government Dental College and Hospital, Fort, Bangalore, India. drarpradeep@hotmail.com

The New York State Dental Journal

|February 7, 2009

Summary

Papillon-Lefèvre syndrome, a rare genetic disorder, causes severe periodontal disease and skin issues. Early, intensive treatment combining mechanical and antimicrobial approaches may help manage its progression.

Area of Science:

Genetics and rare diseases
Dermatology
Periodontology

Background:

Papillon-Lefèvre syndrome is a rare autosomal recessive disorder.
Characterized by severe early-onset periodontitis and palmoplantar hyperkeratosis.
Increased susceptibility to infections is also a common feature.

Observation:

An 8-year-old child presented with classic symptoms of Papillon-Lefèvre syndrome.
The patient exhibited periodontal disease in both primary and permanent teeth, alongside palmar and plantar keratosis.
Family history indicated consanguinity and affected siblings, supporting a genetic etiology.

Findings:

The case highlights the typical clinical presentation of Papillon-Lefèvre syndrome.
Review of literature suggests potential for disease modification.

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Successful outcomes reported in some patients treated with combined therapies.

Implications:

Early diagnosis and intervention are crucial for managing Papillon-Lefèvre syndrome.
Intensive mechanical and antimicrobial periodontal therapy may halt disease progression.
Further research into optimal treatment strategies for this rare syndrome is warranted.