This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, that resembles the appearance of lace; and (3) white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including pulmonary fibrosis, bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals.
This condition is caused by pathogenic variants (mutations) in a number of different genes known to affect the length of the telomeres. Telomeres are structures found at the ends of chromosomes that protect the chromosomes from sticking together or breaking down. In most cells, the telomeres get shorter over time and eventually tell the cell to stop dividing. The genes known to be involved in dyskeratosis congenita include DKC1, TERC, TERT, TINF2, ACD, CTC1, NHP2, NOP10, PARN, RTEL1, and WRAP53. There is evidence that another gene, NPM1, may also be involved. Approximately 70% of those who meet the clinical diagnostic criteria for dyskeratosis congenita have a mutation in one of these genes. How dyskeratosis congenita is inherited depends on which gene is involved. Treatment is aimed at addressing the symptoms present in each individual.
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