Dyskeratosis congenita is a congenital disease. This means it is present at birth. It affects the skin and nails and when severe, can cause bone marrow failure. Symptoms of the disease often do not show up for years. Typical diagnosis is between 10 and 30 years of age.
Symptoms
Abnormal fingernails and toenails
Lacy rash on the face, neck and chest
White patches in the mouth
Pale skin
Fatigue
Headaches
Frequent fevers or infections
Bruising or bleeding
Diagnosis
Because symptoms don’t always appear together, it can be difficult to diagnose dyskeratosis congenita. When DC is suspected, family history will be discussed and a physical exam will be done.
Other tests could include:
Blood counts: These help your child’s doctor understand the cause of the low blood counts. Children with DC typically have a low number of red blood cells, white cells or platelets.
Bone marrow biopsy: This allows the doctor to look for marrow abnormalities like precancerous or cancerous cells.
Telomere length test: This blood test is sent to a specialized lab to measure the length of telomeres in the DNA of blood cells and compare that result to unaffected individuals of the same age.
The most common treatments for DC include:
Androgen therapy: These are steroid drugs that can improve blood counts. The benefits of androgen therapy are only temporary and the length of time this treatment improves bone marrow function varies.
Fighting pediatric cancer and blood disorders
Our UW Carbone Cancer Center team offers the most advanced treatment options. Our pediatric cancer and blood disorder experts are national research leaders. We test new therapies and continue to work on therapies for pediatric cancer and blood disorders. For many children with rare or hard-to-treat conditions, clinical trials provide new options.
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Our pediatric experts have served the special needs of children for more than 100 years. We focus on each child’s unique needs and offer social and emotional support to help you and your child face even the most complex condition. Our long history includes the creation of medical advances that save lives around the world. Together, we get your child back to health and enjoying being a kid.
Our experts are part of the UW Carbone Cancer Center, which is a National Cancer Institute-designated Comprehensive Cancer Center. This designation means that the doctors taking care of your child are experts in cancer treatment, research and education.
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