Literature DB >> 35111818

Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore.

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.
Copyright © 2021 by S. Karger AG, Basel.

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


  9 in total

Review 1.  Dyskeratosis congenita.

Authors:  Inderjeet Dokal
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2011

Review 2.  Dyskeratosis congenita and squamous cell carcinoma of the mandibular alveolar ridge.

Authors:  Alfonso Manfuso; Antonio Maria Risitano; Chiara Copelli
Journal:  BMJ Case Rep       Date:  2021-05-11

Review 3.  Cancer in dyskeratosis congenita.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Blood       Date:  2009-03-12       Impact factor: 22.113

Review 4.  Dyskeratosis congenita: clinical report and review of the literature.

Authors:  I Baran; R Nalcaci; M Kocak
Journal:  Int J Dent Hyg       Date:  2010-02       Impact factor: 2.477

Review 5.  Dyskeratosis congenita: a genetic disorder of many faces.

Authors:  M Kirwan; I Dokal
Journal:  Clin Genet       Date:  2007-11-14       Impact factor: 4.438

6.  Dyskeratosis congenita: the first NIH clinical research workshop.

Authors:  Sharon A Savage; Inderjeet Dokal; Mary Armanios; Geraldine Aubert; Edward W Cowen; Demetrio L Domingo; Neelam Giri; Mark H Greene; Paul J Orchard; Jakub Tolar; Ekaterini Tsilou; Carter Van Waes; Judy M Y Wong; Neal S Young; Blanche P Alter
Journal:  Pediatr Blood Cancer       Date:  2009-09       Impact factor: 3.167

Review 7.  Cancer risk associated with alcohol and tobacco use: focus on upper aero-digestive tract and liver.

Authors:  Claudio Pelucchi; Silvano Gallus; Werner Garavello; Cristina Bosetti; Carlo La Vecchia
Journal:  Alcohol Res Health       Date:  2006

8.  Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report.

Authors:  Adel Boueiz; Marwan S Abougergi; Carlos Noujeim; Edmond Bou Assaf; Ghassan Jamaleddine
Journal:  J Med Case Rep       Date:  2009-03-26

9.  TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Authors:  Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal:  Blood       Date:  2008-07-30       Impact factor: 22.113

  9 in total

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