title: Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.
abstract: Dyskeratosis congenita is an inherited disorder characterized by nail dystrophy, skin pigmentary changes, mucosal leukoplakia, pancytopenia and an increased incidence of malignancy. Because of a widely held view that the outcome of bone marrow transplantation in dyskeratosis congenita is poor, this treatment option is sometimes not considered when pancytopenia develops. We present a child currently doing well 3 years after bone marrow transplantation, and review the literature.
authors.affiliation: Department of Dermatology, Hospitals for Sick Children, London, U.K.
authors.forename: R J
authors.initials: RJ
authors.lastname: Phillips
authors.forename: M
authors.initials: M
authors.lastname: Judge
authors.forename: D
authors.initials: D
authors.lastname: Webb
authors.forename: J I
authors.initials: JI
authors.lastname: Harper
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009260:Nail Diseases / Q000151:congenital* / Q000601:surgery; D010198:Pancytopenia / Q000151:congenital* / Q000601:surgery; D010859:Pigmentation Disorders / Q000151:congenital / Q000601:surgery; D012871:Skin Diseases / Q000151:congenital* / Q000601:surgery; D013577:Syndrome