Treatment of the hematological manifestations of dyskeratosis congenita

C. Putterman, R. Safadi, J. Zlotogora, R. Banura, A. Eldor

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Dyskeratosis congenita is a congenital multisystem disorder, characterized by skin pigmentation, dystrophic nails, and leukoplakia. Hematologic abnormalities progressing to severe pancytopenia play a significant role in the poor prognosis of afflicted patients. We report on a patient with dyskeratosis congenita and severe aplastic anemia, complicated by life threatening infection. The patient was treated with recombinant granulocyte-macrophage colony-stimulating factor. This therapy resulted in a moderate and transient improvement in absolute neutrophil counts. Current concepts regarding the pathogenesis and etiology of dyskeratosis congenita are discussed, while reviewing the available therapeutic options.

Original languageEnglish (US)
Pages (from-to)209-212
Number of pages4
JournalAnnals of Hematology
Issue number4
StatePublished - Apr 1 1993
Externally publishedYes


  • Aplastic anemia
  • Bone marrow transplantation
  • Dyskeratosis congenita
  • Granulocyte-macrophage colony
  • Pancytopenia
  • stimulating factor

ASJC Scopus subject areas

  • Hematology


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