Heart and Blood Conditions

Dyskeratosis Congenita Symptoms and Diagnosis

Symptoms of Dyskeratosis Congenita

For many years, doctors thought dyskeratosis congenita was a skin disease that also affected the mouth and nails. People were diagnosed with the disease if they had three main symptoms:

  • A lacy-looking rash on the face, neck and chest
  • White patches in the mouth (leukoplakia, say LOO-kuh-PLAY-kee-uh)
  • Fingernails and toenails that are not shaped normally

Doctors now know that people with DC may have all of these symptoms, just one or two of them or none at all. The symptoms may be severe or mild.

Doctors also know that people with dyskeratosis congenita are more likely to have other health problems. Children with DC are more likely than other children to develop:

Dyskeratosis Congenita Diagnosis

Dyskeratosis congenita can be hard for doctors to diagnose because different people have different symptoms that show up at different times in their lives. Still, finding the condition early is very important. Treatments may have a better chance of success if they start early and if experienced doctors are carefully watching children with DC.

Most of the time, our team will begin diagnosing your child by:

  • Taking a detailed health history
  • Examining your child for signs of DCM

Next, we may ask your child to have one or more tests. We may:

  • Do blood tests to check the level of each kind of blood cell. We look at the blood cells under a microscope and use what we see to help find out the cause of the problem.
  • Take a sample, usually of blood or spit (saliva), and test it for changes (mutations) in the genes that are linked to DC.
  • Do blood tests to look for unusual parts of the chromosomes, which are the structures that carry genes. This relatively new test checks whether the ends of your child's chromosomes, called telomeres (TEE-lo-meers), are unusually short.