Dyskeratosis congenita as a multifaceted bone marrow disorder

Abstract

Dyskeratosis congenita (DC) is a rare multisystem clinical entity caused by genetic mutations associated with telomere biology disorder. The symptoms include bone marrow dysfunction as well as skin and mucosal abnormalities. In severe cases, DC is characterized by high mortality rates among children. In milder subtypes, it is less detectable in adults, due to the occurrence of cryptic forms of the disease. To date, more than 15 mutated genes have been shown as causative for DC. The aim of this study was to provide a brief description of the currently known clinical and genetic characteristics of DC, and to elucidate the molecular pathogenesis.