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Article

Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.

Journal of periodontology - 1 Dec 2005

Cagli N Arzu, Hakki Sema S, Dursun Recep, Toy Hatice, Gokalp Alparslan, Ryu Ok Hee, Hart P Suzanne, Hart Thomas C

Abstract excerpt

BACKGROUND: Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontitis affecting both primary and secondary dentitions. Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. METHODS: A 4-year-old female (case 1) and her...

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Source

Identifiers

PMID: 16332247
DOI: 10.1902/jop.2005.76.12.2322

Genes

CTSC
CTSG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.PMID 16332247Read ↗

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