Dyskeratosis congenita

Zinsser-Cole-Engman syndrome


Type of disease: Rare conditions

Dyskeratosis congenita (DKC) is a rare genetic condition that affects many parts of the body. The three major features seen in DKC include abnormally shaped fingernails and toenails that grow poorly (nail dystrophy), changes in skin coloring (pigmentation) on the neck and chest, and white patches inside the mouth (oral leukoplakia). In addition, people with DKC can also have abnormal bone marrow function (bone marrow failure), abnormal blood cell development (myelodysplastic syndrome), an increased risk for blood based cancer (leukemia), lung problems, eye abnormalities, dental problems, prematurely grey hair, hair loss, low bone mineral density (osteoporosis), and liver disease. The severity of symptoms varies and some people with DKC only have a few mild features.

Mutations (changes) within several genes have been associated with DKC. Not all genes are known however, as only 60% of people with DKC have had disease-causing mutations identified. DKC can be inherited in many different ways, depending on which gene is causing the disease. One form of DKC affects males only, while the others affect males and females equally. There is no cure for DKC, but treatment options are available to help with some of the symptoms. If you or someone you know has this diagnosis, talk to your doctor about the most current treatment options. Support groups are a good source of information and can put you in contact with other families.

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