1992•British Journal of DermatologyRequires access
Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation
R Phillips, Mary Judge, David Webb, John Harper
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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.