%0 Generic
%A Neri Morales C
%A Cuestas D
%A Ángel F
%A Ilelaty Urbano F.A
%A Rodríguez P.A
%A Brito J.A
%A Téllez D
%A Fernández I
%A Celis Regalado L.
%8 2024
%@ 3403696
%U http://hdl.handle.net/10818/61900
%X 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. © The Author(s) 2024.
%I Archives of Dermatological Research
%T Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists
%R 10.1007/s00403-024-03050-9
%~ Intellectum