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A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry - 1 Jan 2026

Assas Motaz, Hazzazi Abdullah, Alutaibi Abdullah, Aladwani Ameerah, Alsaggaf Arwa U, Alshawi Bashayer, Abed Hassan

Abstract excerpt

INTRODUCTION: Cathepsin C (CTSC), a lysosomal cysteine protease, acts as a primary activator of several critical immune enzymes. Mutations in CTSC can cause a variety of conditions, primarily Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS), both rare autosomal recessive palmoplantar keratoderma (PPK) diseases. CASE REPORT: We report the case of a 24-year-old female patient. Her past medical history...

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Identifiers

PMID: 41914522
DOI: 10.1111/scd.70164

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CTSC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.PMID 41914522Read ↗

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Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.Semantic proximity Read ↗

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