Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor.

Area of Science:

• Genetics
• Dermatology
• Dentistry

Background:

• Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder.
• Characterized by palmoplantar hyperkeratosis and severe, early-onset periodontitis.
• Leads to premature loss of both primary and permanent dentition.

Purpose of the Study:

• To report two sibling cases of Papillon-Lefevre syndrome.
• To describe the clinical presentation and oral manifestations.
• To outline the interdisciplinary dental management approach.

Main Methods:

• Clinical examination of two siblings presenting with skin and oral symptoms.
• Detailed patient histories were obtained.
• Diagnosis of PLS was confirmed based on clinical findings.

Main Results:

• Both patients exhibited palmoplantar hyperkeratosis (thickened, scaling skin on palms and soles).
• Severe periodontitis and significant alveolar bone resorption were observed.
• The female patient retained only third molars; the male patient retained a few specific teeth.

Conclusions:

• Early diagnosis and intervention are crucial for managing PLS.
• An interdisciplinary approach involving dentistry is essential for optimal patient outcomes.
• This case highlights the characteristic features and management challenges of PLS.