A Case Report on a Rare Inherited Bone Marrow Failure Syndrome: Dyskeratosis Congenita.

Authors

  • Md Anwarul Karim Professor, Department of Paediatric Haematology & Oncology, BSMMU, Dhaka, Bangladesh
  • Chowdhury Yakub Jamal Professor, Department of Paediatric Haematology & Oncology, BSMMU, Dhaka, Bangladesh
  • Md Imrul Kaes Ex resident, Department of Paediatric Haematology & Oncology, BSMMU, Dhaka, Bangladesh
  • Khondaker Mobasher Ahmed Resident, Department of Paediatric Gastroenterology & Nutrition, BSMMU, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bjch.v44i2.51139

Keywords:

Dyskeratosis congenita (DC)

Abstract

Dyskeratosis congenita is a rare type of inherited bone marrow failure syndromes (IBMFs) characterized by ectodermal dysplasia, bone marrow failure and cancer predisposition. Accelerated telomere shortening is supposed to be the causal mechanism of this disease. Features of ectodermal dysplasia appears early and may give clues of suspicion of forthcoming bone marrow disease. It has variable presentation and severe form of disease presents earlier. This a case report on a 2 year 2-month old boy who presented with features of bone marrow failure and had abnormality of skin, nail and oral mucosa.

Bangladesh J Child Health 2020; VOL 44 (2) :122-125

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Published

2020-12-31

How to Cite

Karim, M. A., Jamal, C. Y., Kaes, M. I., & Ahmed, K. M. (2020). A Case Report on a Rare Inherited Bone Marrow Failure Syndrome: Dyskeratosis Congenita. Bangladesh Journal of Child Health, 44(2), 122–125. https://doi.org/10.3329/bjch.v44i2.51139

Issue

Vol. 44 No. 2 (2020)

Section

Case Reports