Please use this identifier to cite or link to this item:
https://doi.org/10.1159/000518299
Title: | Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore | Authors: | Juay, Lester Chandran, Nisha Suyien |
Keywords: | Genodermatoses Genetic skin disorders Pigmentary disorders |
Issue Date: | 23-Aug-2021 | Publisher: | S. Karger AG | Citation: | Juay, Lester, Chandran, Nisha Suyien (2021-08-23). Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore. Skin Appendage Disorders. ScholarBank@NUS Repository. https://doi.org/10.1159/000518299 | Rights: | Attribution-NonCommercial-NoDerivatives 4.0 International | 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. | Source Title: | Skin Appendage Disorders | URI: | https://scholarbank.nus.edu.sg/handle/10635/213000 | ISSN: | 2296-9195 2296-9160 |
DOI: | 10.1159/000518299 | Rights: | Attribution-NonCommercial-NoDerivatives 4.0 International |
Appears in Collections: | Staff Publications Elements |
Show full item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
SAD518299.pdf | 361.86 kB | Adobe PDF | OPEN | None | View/Download |
This item is licensed under a Creative Commons License