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Dyskeratosis Congenita (DC)
Sunday, 20 July 2003
Thursday, 02 May 2013
DC,Zinsser-Cole-Engman syndrome, Scoggins type dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

What

Dyskeratosis congenita (DC) is a disease that typically results in changes in skin color, abnormal nails, and white patches in the mouth, lips, and anus. It can cause severe changes in the blood and immune system, and has a risk of causing cancers as well. It is often described as a premature aging syndrome.

Who

DC may occur more commonly in family members of someone who has DC, because of the inherited nature of the disease. Boys are more likely to be affected than girls. Many people have the skin features mentioned, but not all do. The frequency of the disease is not known but it is believed to be rare.

Signs and Symptoms

While the physical features of DC are often seen first in childhood, they may not appear until adulthood, and some people are diagnosed without having any of the physical features. The most classic sign is a lacy change in the color of the skin. The fingernails and toenails may become shrunken and pitted, and white patches may appear in the mouth. If two of these signs are present, testing should be done to determine if the child has DC. Most of the time, people with DC have normal intelligence and children have normal development, although a few very severely affected people may have problems with this. The physical features are the most characteristic signs of DC, but people with DC can have other health problems as well. The bone marrow may have trouble producing blood cells, causing anemia and problems fighting infections and controlling bleeding. Some cancers are more common in DC, especially on the head and neck, and these may be the first sign of DC in an adult. Also, scarring of the lungs could happen, a problem known as pulmonary fibrosis, which leads to breathing difficulties.

Possible Causes

DC is caused by changes in genes that are responsible for helping to maintain the chromosomes inside cells. DC specifically damages the ability of cells to maintain the ends of their chromosomes (this area of the chromosome is called the telomere). As the telomeres shorten, many of the physical signs may start to appear. DC is inherited, but may be inherited in a variety of different ways, and parents are not always affected. There are autosomal dominant, autosomal recessive and X-linked forms of inheritance. The variety of different inheritance patterns is due to the large number of different genes that may cause the syndrome. Genes that are known to cause DC or syndromes very similar include TERT, TERC, NOLA2, TINF2, NOLA3, WRAP53, DKC1, CTC1

Diagnosis

The shortened telomere can be measured using special testing on the blood cells. This would be the first test in someone suspected of having DC. This could be done for family members or children of someone affected as well. If the telomeres are found to be excessively short, the genes known to cause DC are sequenced to find out if there are any changes in them that would be likely to cause DC.

Treatment

The exact treatment depends on what features are present. For those with problems making blood cells, using androgens (synthetic testosterones) may be helpful. Occasionally, these children may need a bone marrow transplant. If a patient with DC has cancer, it is treated in a similar fashion to other patients with similar cancers. People with pulmonary fibrosis may ultimately need a lung transplant, but can be treated with oxygen and other supportive measures before that. All patients with DC need to see specialists regularly to monitor for the development of any of these conditions, including blood doctors (hematologists), pulmonologists, dermatologists, dentists and head and neck surgeons.

Prognosis

The problems and signs of DC may become more pronounced as people age, and the disease may be first diagnosed as an adult. Furthermore, sometimes children of parents who have DC may be affected earlier and more severely than their parents were. The overall prognosis depends largely on whether some of the more severe problems, such as blood or head and neck cancers, or pulmonary fibrosis, are present.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Wikipedia http://en.wikipedia.org/wiki/Dyskeratosis_congenita The Wikipedia page is relatively complete currently, although possibly somewhat confusing unless comfortable with biological and medical terms. Dyskeratosis Congenita Outreach, Inc. http://www.dcoutreach.org/ A well-done and complete family and support site that includes information and family stories, as well as other support information. The Gary Woodward Dyskeratosis Congenita Trust http://www.dyskeratosiscongenita.org/ Somewhat limited in the information it provides, but it does provide some opportunities for connection. IBMFS – Dyskeratosis Congenita http://marrowfailure.cancer.gov/DC.html A limited review of DC.

Google Search for Dyskeratosis Congenita (DC)

References and Sources

GeneReviews: Dyskeratosis congenita http://www.ncbi.nlm.nih.gov/books/NBK22301/ OMIM: Dyskeratosis congenita http://omim.org/phenotypicSeries/127550 and associated links