Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.

Phillips, R J; Judge, M; Webb, D; Harper, J I · Br J Dermatol · 1992

case_report · Level V

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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.

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