Dyskeratosis congenita is a rare genetic disorder causing bone marrow failure, often with skin abnormalities. Diagnosis is confirmed by genetic testing, and treatment ranges from medication to bone marrow transplantation. The condition is rare, with no link to race or ethnicity, and over 75% of cases are male. Symptoms include skin conditions, bone marrow failure, and other medical problems. Life expectancy varies with the severity of the disease, but in severe cases, it is 16 years.
Dyskeratosis congenita, also known as DKC or DC, is a rare genetic disorder that causes bone marrow failure. Individuals with this congenital disorder often have unusual skin conditions that indicate the disease, although in some cases, the first indication of DKC is bone marrow failure. The diagnosis is confirmed by genetic testing. Treatment of dyskeratosis congenita ranges from medications to bone marrow transplantation.
This condition is extremely rare, occurring in approximately one in a million individuals. While there appears to be no link to race or ethnicity, over 75% of cases are male. The mutation appears on multiple genes, and researchers continue to discover connections. There appear to be three primary genetic links.
Zinsser-Cole-Engaman syndrome, also known as X-link recessive, occurs when the disease is passed on only on the X chromosome and therefore affects only males. Autosomal dominant cases occur when patients receive the defect from only one parent, while patients with an autosomal recessive form of the disease have received mutations from both parents. In some cases of dyskeratosis congenita, there is no genetic link to the disease and the mutation occurs spontaneously.
If the parents have the disease or are aware that they are carriers, genetic testing can be done in utero or soon after birth to determine if a child has DKC. Otherwise, diagnosis of the disease typically occurs around age 10 and is confirmed with genetic testing. Doctors may notice several skin conditions such as a rash on the face, neck and chest; nail abnormalities including ridges, splits, and weakness; or leukoplakia, which are white patches that occur in the mouth or other areas of the lining. Many of these symptoms are similar to those of premature aging.
The most common symptom of dyskeratosis congenita is bone marrow failure. The bone marrow creates red blood cells, white blood cells, and platelets, and when the bone marrow breaks down, these cells are affected. The failure can progress as a reduction in any of these cells. If platelets are low, a condition known as thrombocytopenia, patients will have problems with blood clotting. A decrease in red blood cells, which carry oxygen and iron, causes anemia; if white blood cells are not produced, patients lose the ability to fight the disease.
Marrow failure is common in 90% of DKC cases and is often treated with the use of steroids and other drugs that stimulate marrow production. A bone marrow transplant is the only way to cure marrow failure. A transplant carries a high risk of complications and does not affect other problems caused by the disease.
Patients with dyskeratosis congenita often develop other medical problems as a result of their condition. Those with DKC have a higher risk of pulmonary fibrosis, some cancers related to leukoplakia, skeletal disorders including scoliosis, and gastrointestinal problems such as cirrhosis. Life expectancy varies with the severity of the disease, but in severe cases the average life expectancy is 16 years. Researchers continue to study this disease and look for treatment options.
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