Long-term periodontal maintenance in a patient with Papillon-Lefèvre syndrome: an 8-year case report

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder with a prevalence of approximately 1-4 cases per one million individuals. This condition frequently leads to premature loss of both the primary and the permanent teeth. PLS is primarily caused by mutations in the cathepsin C (CTSC) gene, resulting in the loss of CTSC function, which disrupts immune regulation and triggers severe inflammatory responses. Maintaining and preserving teeth in these patients therefore presents a significant challenge for periodontists.

The patient received multidisciplinary treatment involving periodontics, oral and maxillofacial surgery, and prosthodontics. Hopeless teeth were extracted, removable dentures were provided, and supportive periodontal maintenance was performed over an 8-year period. Adjunctive systemic antibiotics were used during active treatment and selected maintenance visits because of severe inflammation and multiple sites with suppuration, but this approach was not designed as a standardized long-term antibiotic protocol.

At the latest follow-up, 22 natural teeth were retained. The bleeding on probing rate decreased from 71% at baseline to 18% in March 2025, the proportion of sites with probing depth ≥ 4 mm decreased from 54 to 27%, and the Plaque Index improved from 2-3 to 1-2. Clinical attachment level was not consistently recorded and therefore could not be analyzed longitudinally.

This single case suggests that early diagnosis, extraction of hopeless teeth, individualized multidisciplinary periodontal-prosthodontic management, regular supportive periodontal care, sustained plaque control, and strong family cooperation may help prolong the retention of functional natural teeth in selected patients with Papillon-Lefèvre syndrome. Further longitudinal studies with standardized periodontal, microbiological, and antimicrobial-resistance monitoring are needed.