Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin


JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.25, no.4, pp.333-335, 2003 (SCI-Expanded) identifier identifier identifier


Dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticulate skin pigmentation, nail dystrophy, mucosal leucoplakia, and bone marrow failure, Pancytopenia is difficult to manage in patients,with this disorder. We describe a 13-month-old-boy who presented with reticulate skin lesions. paleness, and hepatosplenomegaly. Anemia and leukopenia developed by the age of 43 months. The patient was treated with granulocyte-macrophage colony-stimulating factor (GM-CSF) (5 mug/kg/d, subcutaneously) for 19 months and erythropoietin (150 U/k 3 days in a week, subcutaneously) for 8 months. with excellent neutrophil and hemoglobin response. Recurrent infections were not developed after starting GM-CSF. and packed red blood cell transfusion was not given to the patient after starting erythropoietin. GM-CSF combined with erythropoietin may be used in the treatment of bone marrow failure in patients with DC without an HLA-identical donor.