Dyskeratosis Congenita is a rare hereditary disorder characterized by a triad of nail dystrophy, leukoplakia and abnormal skin pigmentation. Other presentations include BM failure, predisposition to malignancy, and fatal pulmonary disease. BM failure is the most important cause of morbidity and mortality and here, we report a case of 2 year old Female child with Dyskeratosis congenita complicated with pancytopenia and neutropenic fever.

Keywords: Dyskeratosis congenital, BM failure, inherited pancytopenia, dystrophic nails, skin pigmentation.

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Dr Aparna B Raj

JR3, MKCG MCH, Berhampur, Odisha