摘要
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.
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.
