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Related Experiment Video

Updated: Jul 12, 2026

Intravital Microscopy of Leukocyte-endothelial and Platelet-leukocyte Interactions in Mesenterial Veins in Mice

Intravital Microscopy of Leukocyte-endothelial and Platelet-leukocyte Interactions in Mesenterial Veins in Mice

Published on: August 13, 2015

[Papillon-lefèvre syndrome].

Dermatologica

|January 1, 1978

Summary

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

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

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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.