Sporadic dyskeratosis congenita in a male – A case report

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Case Report

Author Details : Yashwitha Badam*, Vijaya Mohan Rao Avisa, A Sumalatha, G Pavan Kumar Reddy, A Bhavana

Volume : 8, Issue : 1, Year : 2022

Article Page : 55-56

https://doi.org/10.18231/j.ijced.2022.012

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Abstract

Dyskeratosis congenita was first described in 1960 as Zinsser-Engman-Cole syndrome. It is a rare inherited condition with a progressive nature and a tendency to involve multiple systems like pulmonary, gastrointestinal, genitourinary, cerebral, and dental. It has an X-linked recessive (most common) or Autosomal dominant or recessive inheritance with a high male preponderance. The genetic defect lies in the DKC1 gene which encodes for Dyskerin protein. Dyskeratosis congenita patients are at a higher risk of development of malignancies, pulmonary fibrosis and eventually aplastic anemia and bone marrow failure which may be the cause of death. This report details a case of Dyskeratosis congenita affecting a 21 year old male patient with the most benign presentation.
 

Keywords: Dyskeratosis congenital, Reticular skin pigmentation, Dystrophic nails, Oral leukoplakia, Dyskerin protein, Bone marrow failure

How to cite : Badam Y, Avisa V M R, Sumalatha A, Reddy G P K, Bhavana A, Sporadic dyskeratosis congenita in a male – A case report. IP Indian J Clin Exp Dermatol 2022;8(1):55-56

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