A petit telomere – A catalyst for bone marrow failure

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder estimated to affect 1 in 1 million people characterized by rapidly depleting telomere length causing premature apoptosis or senescence results in progressive bone marrow failure. It is also known as Zinsser–Engman–Cole syndrome, and it was first described in 1906. The classic triads of DC include reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Here, we report a case of a 20-year-old female presented with anemia symptoms and, on evaluation, diagnosed as bone marrow failure secondary to DC.

Keywords

• dyskeratosis congenita
• inherited bone marrow failure syndrome
• short telomere syndrome