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Papillon-Lefèvre syndrome treated with acitretin
Michael R Lee1, Li-Chuen F Wong, Gayle O Fischer
1Department of Dermatology, Royal North Shore Hospital, St Leonards, New South Wales, Australia. mick155@bigpond.net.au
Insights
Papillon-Lefèvre syndrome, a rare genetic disorder, causes severe skin and gum issues. Treatment with acitretin and antibiotics significantly improved a young patient's condition, clearing skin lesions and preventing new periodontal disease.
Area of Science:
- Genetics
- Dermatology
- Oral Medicine
Background:
- Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar keratoderma and severe periodontitis.
- The condition is caused by mutations in the cathepsin C gene, leading to impaired neutrophil function.
Observation:
- A 7-year-old boy with consanguineous parents presented with severe palmoplantar keratoderma and chronic gingivitis since infancy.
- Genetic analysis revealed homozygosity for a point mutation in exon 6 of the cathepsin C gene.
Findings:
- Treatment with oral acitretin (10 mg daily) and trimethoprim-sulfamethoxazole was initiated.
- After one year, the patient exhibited near-complete resolution of skin lesions.
- Newly erupted teeth were free from periodontal disease, indicating successful management of the oral manifestations.
Implications:
- This case highlights the efficacy of acitretin and antibiotic therapy in managing Papillon-Lefèvre syndrome.
- Early diagnosis and combined treatment can significantly improve patient outcomes, preventing severe disfigurement and tooth loss.
- Further research into cathepsin C gene function and therapeutic targets is warranted.
Abstract:
A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon-Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease.
