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Article

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.

Journal of dentistry for children (Chicago, Ill.) - 1 Jan 2000

Pallos Debora, Acevedo Ana Carolina, Mestrinho Heliana Dantas, Cordeiro Ilia, Hart Thomas C

Abstract excerpt

PURPOSE: Papilion-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (PK) and severe aggressive periodontitis. Cathepsin C (CTSC) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide. The purpose of this study was to report a novel cathepsin C mutation in a Brazilian patient. METHODS: A 4-year-old...

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Identifiers

PMID: 20359428
PMCID: PMC4617240

Genes

CTSC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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