Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized
clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and
is associated with high risk of developing aplastic anemia, myelodysplastic syndrome,
leukemia, and solid tumors. Patients have very short germline telomeres, and approximately
half have mutations in one of six genes encoding proteins that maintain telomere function.
Accurate diagnosis of DC is critical to ensure proper clinical management, because patients …