Back to Journals » Journal of Blood Medicine » Volume 5

The diagnosis and treatment of dyskeratosis congenita: a review

Authors Fernández García MS, Teruya-Feldstein J

Received 5 April 2014

Accepted for publication 3 June 2014

Published 21 August 2014 Volume 2014:5 Pages 157—167


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 4

M Soledad Fernández García,1,2 Julie Teruya-Feldstein1

1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA; 2Department of Pathology, Hospital Universitario Central de Asturias, Oviedo, Spain

Abstract: Dyskeratosis congenita (DC) is an inherited bone marrow failure (BMF) syndrome characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. However, patients usually develop BMF and are predisposed to cancer, with increased risk for squamous cell carcinoma and hematolymphoid neoplasms. DC is a disease of defective telomere maintenance and is heterogeneous at the genetic level. It can be inherited in X-linked, autosomal dominant, or autosomal recessive patterns. Mutations in at least ten telomere- and telomerase-associated genes have been described in DC. There are no targeted therapies for DC and patients usually die of BMF due to a deficient renewing capability of hematopoietic stem cells. Allogeneic hematopoietic stem cell transplantation is the only curative treatment for BMF.

Keywords: dyskeratosis congenita, diagnosis, genetics, clinical, treatment

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]