Papillon–Lefèvre Syndrome Associated with a Newly Identified Homozygous c.872G>A Mutation in the CTSC Gene: A Case Report

Ahmet Turan Ünsal; Rukiye Guner; Hüseyin Sonat Şimşir

doi:10.7197/cmj.1825509

EN TR

Papillon–Lefèvre Syndrome Associated with a Newly Identified Homozygous c.872G>A Mutation in the CTSC Gene: A Case Report

Abstract

Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis caused by pathogenic variants in the CTSC gene. The condition is characterized by the coexistence of palmoplantar keratoderma and early-onset, rapidly progressive periodontitis. Here, we present a 21-year-old female patient in whom a previously unreported homozygous CTSC variant, c.872G>A, was identified. Since childhood, the patient had marked hyperkeratosis on the palmoplantar regions, early tooth loss, and the need for oral prostheses. A family history of individuals with similar dermatologic features and consanguinity between the parents supported an autosomal recessive inheritance pattern. The identified variant was evaluated in conjunction with the clinical phenotype and was classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria. Systemic retinoid therapy was recommended but could not be initiated due to patient preference. This case contributes to the expanding genetic spectrum of PLS and highlights the crucial importance of early diagnosis, a multidisciplinary approach, and treatment adherence in determining disease prognosis.

Keywords

CTSC Geninde Yeni Tanımlanan Homozigot c.872G>A Mutasyonu ile İlişkili Papillon–Lefèvre Sendromu: Olgu Sunumu

Öz

Papillon-Lefèvre sendromu (PLS), CTSC genindeki patojenik varyantlara bağlı olarak gelişen, otozomal resesif kalıtılan nadir bir genodermatozdur. Hastalık; palmoplantar keratoderma ile erken başlangıçlı ve hızla ilerleyen periodontitisin birlikte görülmesiyle karakterizedir. Bu yazıda, CTSC geninde literatürde daha önce tanımlanmamış homozigot c.872G>A varyantı saptanan 21 yaşında kadın bir olgu sunulmaktadır. Hastada çocukluk döneminden itibaren palmoplantar bölgelerde belirgin hiperkeratoz, erken diş kayıpları ve oral protez kullanımı mevcuttu. Aile öyküsünde benzer dermatolojik tabloya sahip bireylerin bulunması ve ebeveynlerin akraba olması, otozomal resesif kalıtımı desteklemektedir. Moleküler genetik analiz sonucunda tespit edilen varyant, klinik fenotip ile birlikte değerlendirilmiş ve Amerikan Tıbbi Genetik ve Genomik Koleji (ACMG) kriterlerine göre muhtemelen patojenik olarak sınıflandırılmıştır. Hastaya sistemik retinoid tedavisi önerilmiş olsa da tedavi, hastanın isteği doğrultusunda başlatılamamıştır. Bu olgu, PLS’nin genetik çeşitliliğine katkı sunmakla birlikte, erken tanının, multidisipliner yaklaşımın ve hastanın tedavi uyumunun hastalık prognozu üzerindeki belirleyici önemini vurgulamaktadır.

Anahtar Kelimeler

Thanks

We would like to express our gratitude to Asst. Prof. Dr. Şeyhus Kaya from the Department of Pathology for his valuable contributions, pathological evaluation, and expert guidance throughout the assessment of this case.

References

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Details

Primary Language

English

Subjects

Medical Education

Journal Section

Case Report

Authors

Ahmet Turan Ünsal ^*
0009-0003-8696-9583
Türkiye

Rukiye Guner
0000-0002-5154-4652
Türkiye

Hüseyin Sonat Şimşir
0009-0005-0731-1770
Türkiye

Publication Date

March 31, 2026

Submission Date

November 17, 2025

Acceptance Date

March 25, 2026

Published in Issue

Year 2026 Volume: 48 Number: 1

DOI

https://doi.org/10.7197/cmj.1825509

IZ

https://izlik.org/JA73HJ92EB

Cite

RIS / Bibtex

AMA

1.Ünsal AT, Guner R, Şimşir HS. Papillon–Lefèvre Syndrome Associated with a Newly Identified Homozygous c.872G>A Mutation in the CTSC Gene: A Case Report. CMJ. 2026;48(1):24-28. doi:10.7197/cmj.1825509