Dyskeratosis congenita, a rare x-linked hereditary disease with mutations in the DKC1 gene, is one of the earliest manifestations of shortened telomeres. This presents in childhood as a triad of mucocutaneous features, including oral leukoplakia, skin hyperpigmentation, and nail dystrophy associated with premature aging. About 10% of patients with dyskeratosis congenita do not have classic physical findings suggestive of the disease. The high mortality rate of this disorder is due to bone marrow failure, presenting as aplastic anemia. Twenty percent of the patients manifest features of pulmonary fibrosis, which is the second leading cause of death. Mutations in telomerase reverse transcriptase and telomerase RNA can lead to diverse phenotypes of disease presentations outside of the bone marrow, with an autosomal-dominant inheritance and genetic anticipation, leading to earlier and more severe forms of disease in successive generations.