Papillon–Lefèvre syndrome

Overview

Board takeaway: Act early to preserve both dentitions. An autosomal recessive cathepsin C defect causes thickened palms and soles and severe periodontitis; without effective control, rapid attachment loss and premature tooth loss can follow.

How does Papillon–Lefèvre syndrome affect dental management?

Arrange early coordinated periodontal, pediatric dental, and medical care to preserve teeth and function. The prognosis varies, and tooth loss is not an inevitable schedule for every child.

• Periodontal treatment: Use intensive plaque control and nonsurgical periodontal therapy; systemic antibiotics may be an adjunct selected by the treating team. A syndrome label alone is not a prescription for a fixed antibiotic combination.
• Extraction: Extract teeth with a hopeless prognosis after reviewing disease extent and the developing dentition. Reports of removing all primary teeth to create a tooth-free interval do not establish a universal AAPD treatment requirement.
• Follow-up: reassess periodontal response and erupting permanent teeth closely; tailor maintenance to active disease.
• Rehabilitation: plan space and prosthetic care after tooth loss; adjust appliances with growth.
• Skin treatment: Dermatology directs treatment of palmoplantar lesions, including any systemic retinoid therapy.

Exam pearl

What is Papillon–Lefèvre syndrome?

An autosomal recessive disorder caused by CTSC gene dysfunction, characterized by thickened skin on the palms and soles and severe early-onset periodontitis affecting primary and permanent teeth.

What are the main systemic features of Papillon–Lefèvre syndrome?

• Genetics and frequency: CTSC (cathepsin C) mutation; 1–4 per million; often consanguinity
• Skin: Palmoplantar hyperkeratosis appears in the first years of life
• Other features: Increased skin and other infections; calcification of the dura

What oral findings occur in Papillon–Lefèvre syndrome?

• Teeth form and erupt normally, then severe gingival inflammation and rapid bone loss soon after eruption
• Teeth float in bone and exfoliate in roughly the order they erupted
• Aggregatibacter actinomycetemcomitans often implicated

For Papillon–Lefèvre syndrome, why does the periodontal disease occur?

• Cathepsin C activates neutrophil serine proteases
• Deficiency impairs bacterial killing, including Aggregatibacter actinomycetemcomitans

Sources

• AAPD dental guidance: AAPD: Systemic diseases and syndromes that affect the periodontium
• Supplemental study guide: Pediatric Dental Study Guide: Papillon-lefevre syndrome
• Periodontal Conditions in Pediatric Dental Patients
• Systemic Diseases and Syndromes that Affect the Periodontium