Treatment of the hematological manifestations of dyskeratosis congenita.
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.
Putterman
C
C
Department of Medicine, Hadassah University Hospital-Ein Kerem, Jerusalem, Israel.
Safadi
R
R
Zlotogora
J
J
Banura
R
R
Eldor
A
A
D000741:Anemia, Aplastic / Q000150:complications / Q000628:therapy*; D002648:Child; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D007971:Leukoplakia / Q000150:complications*; D008297:Male; D009264:Nails, Malformed / Q000150:complications*; D009503:Neutropenia / Q000150:complications / Q000628:therapy*; D010859:Pigmentation Disorders / Q000150:complications*; D011994:Recombinant Proteins / Q000627:therapeutic use
D011994:Recombinant Proteins; D016178:Granulocyte-Macrophage Colony-Stimulating Factor