Papillon-Lefevre Syndrome — MFDS Part 1 MCQ

Correct answer: C — Autosomal-recessive CTSC dysfunction, palmoplantar keratoderma and rapidly destructive periodontitis affecting both dentitions

Papillon-Lefèvre syndrome is an autosomal-recessive disorder usually caused by loss-of-function variants in CTSC, which encodes cathepsin C. Its defining combination is palmoplantar keratoderma and severe, rapidly progressive periodontitis beginning soon after tooth eruption and affecting both primary and permanent dentitions. Uncontrolled disease commonly causes premature tooth loss. Option A describes cleidocranial dysplasia. Option E represents an X-linked form of amelogenesis imperfecta, which primarily affects enamel rather than causing the characteristic periodontal destruction. Option B describes Van der Woude syndrome. Option D describes osteogenesis imperfecta with dentinogenesis imperfecta. Thus, only option C combines the characteristic inheritance, molecular defect, skin findings and periodontal phenotype.

Reference: Hart TC et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. Journal of Medical Genetics. 1999;36:881–887. https://pubmed.ncbi.nlm.nih.gov/36554029/