Title: A Case of Dyskeratosis Congenita with Early Onset Bone Marrow Failure: A Rare Case Report
Authors: Dr Sunil Kumar Agarwalla, Dr Aparna B Raj
DOI: https://dx.doi.org/10.18535/jmscr/v7i10.124
Abstract
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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