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Papillon-Lefèvre syndrome.

Javeria¹, Samiullah, Neelofar

¹Ayub Teaching hospital Abbottabad, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC

|August 12, 2005

Summary

This summary is machine-generated.

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.

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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.