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J Blood Med. 2014 Aug 21;5:157-67. doi: 10.2147/JBM.S47437. eCollection 2014.

The diagnosis and treatment of dyskeratosis congenita: a review.

Author information

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

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:

clinical; diagnosis; dyskeratosis congenita; genetics; treatment

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