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Updated: Jul 12, 2026
05:12
Intravital Microscopy of Leukocyte-endothelial and Platelet-leukocyte Interactions in Mesenterial Veins in Mice
Published on: August 13, 2015
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.
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.
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