Treatment of the hematological manifestations of dyskeratosis congenita

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

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
Volume66
Issue number4
DOIs
StatePublished - Apr 1993
Externally publishedYes

Fingerprint

Dyskeratosis Congenita
Leukoplakia
Skin Pigmentation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Pancytopenia
Aplastic Anemia
Granulocyte-Macrophage Colony-Stimulating Factor
Nails
Neutrophils
Therapeutics
Infection

Keywords

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

ASJC Scopus subject areas

  • Hematology

Cite this

Treatment of the hematological manifestations of dyskeratosis congenita. / Putterman, Chaim; Safadi, R.; Zlotogora, J.; Banura, R.; Eldor, A.

In: Annals of Hematology, Vol. 66, No. 4, 04.1993, p. 209-212.

Research output: Contribution to journalArticle

Putterman, Chaim ; Safadi, R. ; Zlotogora, J. ; Banura, R. ; Eldor, A. / Treatment of the hematological manifestations of dyskeratosis congenita. In: Annals of Hematology. 1993 ; Vol. 66, No. 4. pp. 209-212.
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