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Case Reports
. 1993 Apr;66(4):209-12.
doi: 10.1007/BF01703237.

Treatment of the hematological manifestations of dyskeratosis congenita

C Putterman  1 , R Safadi, J Zlotogora, R Banura, A Eldor
Affiliations
Case Reports

Treatment of the hematological manifestations of dyskeratosis congenita

C Putterman et al. Ann Hematol. 1993 Apr.

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.

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