Dyskeratosis Congenita Associated with a Novel Missense Variant in TERT: Approach for the Dermatologists

Overview

Journal Arch Dermatol Res

Specialty Dermatology

Date 2024 Jun 28

PMID 38940945

Authors

Constanza Neri Morales

Daniel Cuestas

Felipe Angel

Felipe A Ilelaty Urbano

Paula Andrea Rodriguez

Jose Abraham Brito

Daniel Tellez

Isabel Fernandez

Luis Celis Regalado

Affiliations

Soon will be listed here.

Abstract

Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients.

Citing Articles

TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

Yu G, Xin G, Liu X, Li W, Shao C, Gao R J Med Case Rep. 2025; 19(1):32.

PMID: 39849589 PMC: 11759448. DOI: 10.1186/s13256-025-05031-6.

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