Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.
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.
Phillips
R J
RJ
Department of Dermatology, Hospitals for Sick Children, London, U.K.
Judge
M
M
Webb
D
D
Harper
J I
JI
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