Dyskeratosis congenita

Dyskeratosis congenita, also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable presentation. It was classically defined by a triad of abnormal skin pigmentation, nail dystrophy and leukoplakia of the lining of the mouth, together with myelodysplastic syndrome or acute myeloid leukemia, although these features do not always occur together. The disease is characterized by short telomeres. It often first shows in the skin, but its most serious consequence is progressive bone marrow failure, which occurs in more than 80 percent of people affected and causes early death.