Dyskeratosis Congenita

Sharon A. Savage, Blanche P. Alter

Research output: Contribution to journalArticlepeer-review

127 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)215-231
Number of pages17
JournalHematology/Oncology Clinics of North America
Issue number2
StatePublished - Apr 2009
Externally publishedYes


  • Bone marrow failure
  • DKC1
  • Dyskeratosis congenita
  • Telomere
  • TERC
  • TERT
  • TINF2

ASJC Scopus subject areas

  • Oncology
  • Hematology


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