Aplastic anemia associated with dyskeratosis congenita treated with antilymphocyte globulin and cyclosporine, a case report

Dyskeratosis congenita (DC) is a severe inherited disease characterized by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia.1 Bone marrow failure is the principal cause of early mortality, together with an increased predisposition to malignancy and fatal pulmonary complications. According to the dyskeratosis congenita registry, a peripheral blood cytopenia of one or more lineages is reported in 93% of patients, with 51% developing pancytopenia before the age of 10 years.2 In patients with DC, bone marrow failure or bone marrow failure treatment-associated complications account for 67% of total mortality.3 Therefore, management of bone marrow failure syndrome is crucial in patients with DC.