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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

DOI https://doi.org/10.2147/JBM.S47437

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

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