What is dyskeratosis congenita?
Dyskeratosis congenita is also known as Zinsser–Engman–Cole syndrome. It is a group of genetic diseases that most commonly manifest with mucocutaneous signs, bone marrow failure and/or lung or liver fibrosis. There is considerable variability in the severity, age at onset and organ involvement, even within individual families. The various clinical features are now known to be due to ‘telomere shortening’ (unstable chromosomes), one of the causes of premature ageing. Since identifying the genetic changes, it has been discovered that a number of other conditions are due to changes in the same genes.
