| Literature DB >> 35111818 |
Lester Juay1, Nisha Suyien Chandran1.
Abstract
Dyskeratosis congenita (DKC) is a genodermatosis of variable inheritance and is often characterised by the classical triad of nail dysplasia, reticulate hyperpigmentation of upper chest and neck, and oral leukoplakia. We report 2 cases of DKC from National University Hospital, Singapore, whose clinical presentations differed greatly from each other. Dermatologists should hold a high index of suspicion for DKC in young patients who present without the classical triad of features, as early dermatological care can be instituted through reinforcement of rigorous sun protection and regular surveillance for skin cancers. Early diagnosis also offers physicians the time to organise haematopoietic stem cell transplantation if necessary, as bone marrow failure is often inevitable. As a multisystemic disease with high morbidity and mortality particularly from haematological complications if left undetected and untreated in the early stages, the role of the dermatologist in diagnosing DKC is a crucial one.Entities:
Keywords: Genetic skin disorders; Genodermatoses; Pigmentary disorders
Year: 2021 PMID: 35111818 PMCID: PMC8787606 DOI: 10.1159/000518299
Source DB: PubMed Journal: Skin Appendage Disord ISSN: 2296-9160