An interesting case report on zinsser-engman-cole syndrome “a telomeropathy” along with ventricular septal defect

Abstract

Zinsser-Engman-Cole syndrome or dyskeratosis congenital (DKC) is a rare progressive inherited disorder which is classically defined by the triad of ectodermal dysplasia including abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It has a highly variable phenotype and is characterized by shortening of telomeres. Here, we report a 19-year-old boy who presented to us with classic triad of DKC along with bone marrow failure and ventricular septal defect, a rare association. DKC is a rare disease but can be diagnosed by simple inspection of the mucocutaneous abnormalities.

Keywords

• bone marrow failure
• dyskeratosis congenita
• ventricular septal defect
• zinsser-engman-cole syndrome