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Case Report: Papillon-Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families.

Frontiers in immunology - 1 Jan 2026

Karabag Citlak Hilal, Koc Fatih Sultan Mehmet, Demir Gulizar, Postuk Gulben Ozgul, Kayki Aksoy Nurdan, Demir Oguzhan, Turkyilmaz Ayberk, Cebi Alper Han, Gayretli Aydin Zeynep Gokce, Salci Gul, Yildiz Nalan, Orhan Fazil

Abstract excerpt

Papillon-Lefèvre syndrome is a rare inherited disorder classically associated with palmoplantar keratoderma and early severe periodontitis, but its clinical presentation may be broader than expected. We report four molecularly confirmed cases from two unrelated families carrying two different homozygous CTSC variants. The first index patient presented with a large iliopsoas abscess as the initial manifestation of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42568397
DOI: 10.3389/fimmu.2026.1888482
PMCID: PMC13447139

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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