title: Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
abstract: Dyskeratosis congenita (DC) is a cancer-prone inherited bone marrow failure syndrome caused by aberrant telomere biology. The mucocutaneous triad of nail dysplasia, abnormal skin pigmentation and oral leukoplakia is diagnostic, but is not always present; DC can also be diagnosed by the presence of very short leukocyte telomeres. Patients with DC are at high risk of bone marrow failure, pulmonary fibrosis, liver disease, cancer and other medical problems. Germline mutations in one of nine genes associated with telomere maintenance are present in approximately 60% of patients. DC is one among the group of clinically and biologically related telomere biology disorders, including Hoyeraal-Hreidarsson syndrome, Revesz syndrome, Coats plus (also known as cranioretinal microangiopathy with calcifications and cysts) and subsets of aplastic anemia, pulmonary fibrosis, nonalcoholic and noninfectious liver disease and leukemia. The authors review the pathobiology that connects DC and the related telomere biology disorders, methods of diagnosis and management modalities.
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd. EPS 7018, Rockville, MD 20892, USA.
authors.forename: Bari J
authors.initials: BJ
authors.lastname: Ballew
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
mesh_terms: D001853:Bone Marrow / Q000503:physiopathology; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology; D018740:Genetic Heterogeneity; D018095:Germ-Line Mutation; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D011618:Psychotic Disorders / Q000209:etiology; D019098:Telomerase / Q000235:genetics / Q000378:metabolism; D016615:Telomere / Q000378:metabolism*; D034501:Telomere-Binding Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; C440868:TINF2 protein, human; D034501:Telomere-Binding Proteins; D019098:Telomerase