Overview
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 and diagnosis
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.
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 to 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 which 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.
Treatment
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.
Our UW Health Kids Cancer Care 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.
Meet our team
Locations
UW Health’s pediatric oncologists are dedicated to diagnosing and treating all infants, children and adolescents with cancer, including dyskeratosis congenita.
Our pediatric oncologists 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.
At American Family Children’s Hospital, you will find a friendly, child-centered environment. Our hospital is designed with relaxing spaces and areas where children are encouraged to play.
Patient and support services
There are services available at both American Family Children’s Hospital and in the community to help patients and their families through every step of their journey.
Child Life specialists help your child and family cope with any fears and anxieties, and the American Family Children's Hospital patient and family visitor guide features information about:
Health psychology
Hero beads
Hospital school
Positive Image Center
Spiritual care services
Tyler's Place (sibling child care)
With our expertise comes compassion. Our team considers you and your child part of our family. We will be by your side every step of the way. From diagnosis through treatment and into adulthood, we will care for your child as if they are our own.
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