Treatment of the hematological manifestations of dyskeratosis congenita

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

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20 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
Pages (from-to)209-212
Number of pages4
JournalAnnals of Hematology
Issue number4
StatePublished - Apr 1993
Externally publishedYes


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


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