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 language | English |
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Pages (from-to) | 209-212 |
Number of pages | 4 |
Journal | Annals of Hematology |
Volume | 66 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1993 |
Externally published | Yes |
Keywords
- Aplastic anemia
- Bone marrow transplantation
- Dyskeratosis congenita
- Granulocyte-macrophage colony
- Pancytopenia
- stimulating factor