Treatment of the hematological manifestations of dyskeratosis congenita
- 1 April 1993
- journal article
- case report
- Published by Springer Nature in Annals of Hematology
- Vol. 66 (4) , 209-212
- https://doi.org/10.1007/bf01703237
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.Keywords
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