Sporadic dyskeratosis congenita in a male – A case report

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.