A Case of Dyskeratosis Congenita with Early Onset Bone Marrow Failure: A Rare Case Report

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.

References

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BP Alter, NGiri et al,” Cancer in Dyskeratosis Congenita”, Blood, vol 113, no 26, 6549-6557,2009
Marimarsaez-De-Ocariz et al. Dyskeratosis congenita, neurocutaneous disorders, phakomatoses, and hematoneoplastic syndrome. 2008.pp 661-668
Walne AJ, Dokal I. Advances in understanding of Dyskeratosis Congenita. Br J Haematology. 2009:145(2); 164-172.
SA Savage, BP Alter et al, Dyskeratosis Congenita, Hematology/ Oncology clinics of North America, vol.23,no.2, pp215-231,2009.
Nelson Textbook of paediatrics, 20^thedn,vol 2

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