Dyskeratosis congenita (DKC) is a rare condition marked by progressive failure of the bone marrow, the spongy tissue inside the bones that is essential for the production of new cells. The cells that are produced in the bone marrow can develop into red or white blood cells or platelets. People with DKC do not have adequate numbers of some cells, which causes a condition known as aplastic anemia.
Other symptoms include skin discoloration, nail problems, and oral leukoplakia, a condition in which white or gray patches develop in the mouth as a result of irritation. Symptoms generally appear during the first 10 years of life. Changes in skin coloration and fingernails and toenails tend to be the first symptoms to appear.
DKC is caused by a mutation or defect in any of the followinggenes: DKC1, TERT, TERC, and NOP10. All of the genes associated with this condition are involved with the protection of DNA (deoxyribonucleic acid), the genetic material contained in every cell in the body. DKC may occur as an X-linked recessive, autosomal dominant, or autosomal recessive condition. The severity and prognosis of DKC can be different based on how it is inherited.
DKC is estimated to occur in one out of 1,000,000 people. It is more common among males than females, occurring in three males for every one female. The condition appears to affect all races and ethnicities in equal numbers.
People with DKC have an average life span of 30 years, although most die in their teens. The cause of death is generally from complications caused by bone marrow failure, including infections and cancers.
There is currently no known cure for DKC; treatments aim to reduce symptoms and provide comfort to the individual. Stem cell transplantation has been used with mixed results for the treatment of aplastic anemia in DKC.
Aplastic anemia, autosomal recessive inheritance, bone marrow failure, Cole-Rauschkolb-Toomey syndrome, constitutional bone marrow failure, DKC, HH syndrome, Hoveraal-Hreidarsson syndrome, nail dystrophy, oral leukoplakia, skin discoloration, X-linked inheritance, Zinsser-Engman-Cole syndrome.