Skip to Content

Publications Search - Abstract View

Title: Dyskeratosis congenita.
Authors: Savage SA,  Alter BP
Journal: Hematol Oncol Clin North Am
Date: 2009 Apr
Branches: CGB
PubMed ID: 19327580
PMC ID: PMC2702847
Abstract: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.