Dyskeratosis Congenita: A Case Report

Authors

  • Shahnaz Pervin Sumi Resident Medical Officer, Bangladesh Shishu hospital and Institute
  • Mohammad Abdullah Al Mamun Associate Professor, Department of Pediatrics, Bangladesh Shishu Hospital and Institute
  • Mirza Md Ziaul Islam Associate Professor, Bangladesh Shishu Hospital and Institute, Dhaka
  • Md Jahangir Alam Professor, Department of Pediatrics, Bangladesh Shishu Hospital and institute, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bjch.v46i1.70028

Keywords:

Dyskeratosis Congenita (DC), Inherited disorder, Bone Marrow failure, Dystrophic Nail, Oral Leukoplakia, skin pigmentation

Abstract

Dyskeratosis Congenita (DC) is a rare inherited bone marrow failure disorder characterized by lacy reticulated skin pigmentation, nail dystrophy and mucosal leukoplakia. In DC bone marrow failure is the main cause of premature death with an additional predisposition to malignancy. DC results from progressive shortening of telomeres resulting in DNA replication. X-linked recessive is the main mode of inheritance. Most of the patients respond to Androgen therapy. This is a case report of a 5-year-old boy presented with features of bone marrow failure and had abnormality of skin, oral mucosa and nail. His complete blood count with peripheral blood film showed pancytopenia and no blast cell. Hypocellular marrow was present in his Bone marrow examination. Chromosomal analysis- fluorescence in situ hybridization (FISH) revealed very short telomere of chromosome. Microarray genotyping showed DKC1 gene abnormality.

BANGLADESH J CHILD HEALTH 2022; VOL 46 (1) : 39-41

Downloads

Download data is not yet available.
Abstract
55
PDF
68

Downloads

Published

2023-11-23

How to Cite

Sumi, S. P. ., Mamun, M. A. A. ., Islam, M. M. Z. ., & Alam, M. J. . (2023). Dyskeratosis Congenita: A Case Report. Bangladesh Journal of Child Health, 46(1), 39–41. https://doi.org/10.3329/bjch.v46i1.70028

Issue

Section

Case Reports