Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome (PLS), also known as keratosis palmoplantaris with periodontopathia, is a rare autosomal recessive disorder caused by mutations in the CTSC gene (cathepsin C) located on chromosome 11q14.2. This gene encodes a lysosomal protease essential for immune cell function and epithelial differentiation. The condition is characterized by two hallmark features: palmoplantar keratoderma (thickened, scaly skin on the palms of the hands and soles of the feet) and severe early-onset periodontitis leading to premature loss of both deciduous (baby) and permanent teeth. Skin symptoms typically appear between ages one and five years, often coinciding with the eruption of primary teeth. The aggressive periodontal disease in PLS results from impaired immune defense in the gums, leading to severe inflammation, deep periodontal pockets, and rapid destruction of the alveolar bone that supports the teeth. Without intervention, most affected individuals lose all of their primary teeth by age five and all permanent teeth by their mid-teens. The palmoplantar keratoderma may extend to the dorsal surfaces of the hands and feet, elbows, and knees, and can be associated with increased susceptibility to skin and systemic infections, including liver abscesses and pyogenic infections. Some patients may also develop calcification of the dura mater (the membrane surrounding the brain), though this is usually asymptomatic. Treatment of Papillon-Lefèvre syndrome is multidisciplinary, involving dermatologists, periodontists, and pediatric dentists. Oral retinoids such as acitretin can improve the skin manifestations and may help slow periodontal destruction when combined with rigorous oral hygiene and early, aggressive periodontal treatment including scaling, root planing, and antimicrobial therapy. Despite best efforts, tooth loss is common, and dental implants or prostheses are often needed. Early antibiotic therapy targeting periodontal pathogens such as Aggregatibacter actinomycetemcomitans has shown benefit in preserving the permanent dentition if initiated before irreversible bone loss occurs. Genetic counseling is recommended for affected families.

Common questions about Papillon-Lefèvre syndrome