Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists.

Autor: Neri Morales C; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia. conny2207@gmail.com., Cuestas D; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia.; Estudioderma - Dermatologic Investigation Center - Medical Research Area, Bogotá, Colombia.; Dermatology Program, Universidad El Bosque, Bogotá, Colombia., Ángel F; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Ilelaty Urbano FA; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Rodríguez PA; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Brito JA; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Téllez D; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Fernández I; Department of Medical Genetics Unit, Policlínico Metropolitano, Caracas, Venezuela., Celis Regalado L; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia.
Jazyk: angličtina
Zdroj: Archives of dermatological research [Arch Dermatol Res] 2024 Jun 28; Vol. 316 (7), pp. 438. Date of Electronic Publication: 2024 Jun 28.
DOI: 10.1007/s00403-024-03050-9
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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