title: Dyskeratosis congenita: unusual onset with isolated neutropenia at an early age.
abstract: A 3.5 year old male patient with dyskeratosis congenita (DC) presented at the age of 13 months with isolated neutropenia preceding characteristic skin findings. The average absolute neutrophil count of 500/mm3 persisted without the presence of anemia or thrombocytopenia during the follow up. Neutropenia responded to granulocyte-colony stimulating factor (G-CSF) at a dose of 10 micrograms/kg per day. Immunologic findings were normal as was the chromosomal stability and sister chromatid exchange.
authors: Department of Pediatrics, Hacettepe University Children's Hospital, Ankara, Turkey.
authors: L
authors: L
authors: Yel
authors: I
authors: I
authors: Tezcan
authors: O
authors: O
authors: Sanal
authors: F
authors: F
authors: Ersoy
authors: A I
authors: AI
authors: Berkel
mesh_terms: D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000276:immunology* / Q000628:therapy; D005500:Follow-Up Studies; D016179:Granulocyte Colony-Stimulating Factor / Q000008:administration & dosage; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D008297:Male; D009503:Neutropenia / Q000175:diagnosis / Q000276:immunology* / Q000628:therapy; D009504:Neutrophils / Q000276:immunology
chemical_list: D016179:Granulocyte Colony-Stimulating Factor