Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series.

Authors

Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even-Or

Published in

Oral diseases. Aug 20, 2026. Epub Aug 20, 2026.

Abstract

Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia. This retrospective case series aimed to characterize the oral manifestations in patients followed at a tertiary oral medicine clinic.
Clinical data of patients with DKC followed at the Hadassah Oral Medicine Clinic for Hemato-Oncologic Patients between 2020 and 2025 were retrospectively reviewed to characterize hematologic, somatic, and oral manifestations.
Six DKC patients were included. Five patients underwent HCT, none of whom developed acute or chronic graft-versus-host disease. Oral lichenoid lesions, manifesting as reticular (striated), plaque-like, or erosive-ulcerative patterns, were observed in two patients before and in four patients following hematopoietic cell transplantation (HCT). Three patients presented with plaque-like hyperkeratotic lesions ('leukoplakia'). One patient developed squamous cell carcinoma of the dorsal tongue at 25 years of age.
The oral lesions observed in DKC included not only leukoplakia but also lichenoid and erosive or ulcerative lesions, suggesting a broader clinical spectrum of oral involvement. Further studies are needed to clarify genotype-phenotype correlations and to better define the relationship between oral manifestations and subsequent oral carcinoma development.
Oral manifestations in dyskeratosis congenita are diverse and often extend beyond the traditionally described 'leukoplakia', frequently exhibiting lichenoid or erosive lesions.

PMID:
42625322
Bibliographic data and abstract were imported from PubMed on 21 Aug 2026.

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