PLS CTSC Mutation — NDEB AFK MCQ

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ModeratePeriodontologyPLS CTSC MutationNDEB AFK

Which periodontal condition is caused by specific cathepsin C (CTSC) gene mutations and presents with palmoplantar keratoderma and severe early-onset periodontal destruction?

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Correct answer: E — Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive condition caused by loss-of-function mutations in the cathepsin C gene (CTSC/DPPI), resulting in deficient cathepsin C enzyme activity. This impairs neutrophil function (defective serine protease activation in neutrophils and other immune cells), leading to devastating periodontal destruction affecting both primary and permanent dentitions. The associated palmoplantar keratoderma (thickened skin on palms and soles) is pathognomonic. Treatment includes aggressive periodontal therapy and retinoid therapy.

Reference: Neville – Oral and Maxillofacial Pathology, 4th ed., 2016