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Papillon-Lefèvre syndrome.
Journal of Ayub Medical College, Abbottabad : JAMC
|August 12, 2005
Summary
Papillon-Lefèvre syndrome is a rare genetic disorder causing hyperkeratosis on palms and soles and severe periodontitis. Early diagnosis is crucial for managing this condition in affected children.
Area of Science:
- Dermatology
- Genetics
- Pediatric Dentistry
Background:
- Papillon-Lefèvre syndrome is an autosomal recessive disorder.
- Characterized by palmoplantar hyperkeratosis and periodontitis.
Observation:
- A 9-year-old male presented with extensive keratotic plaques on palms, soles, and dorsal surfaces.
- Swollen gums and loss of permanent dentition were noted since age 4.
Findings:
- Clinical presentation is highly suggestive of Papillon-Lefèvre syndrome.
- The combination of skin and dental findings is a hallmark of the condition.
Implications:
- Highlights the importance of recognizing characteristic dermatological and dental signs for early diagnosis.
- Facilitates timely genetic counseling and management strategies for Papillon-Lefèvre syndrome.