Pediatric dyskeratosis congenita (DC)

World-class pediatric care

If you or your child is diagnosed with dyskeratosis congenita, UW Health offers a leading treatment and research team. We are part of the UW Carbone Cancer Center, Wisconsin's only comprehensive cancer center, as designated by the National Cancer Institute.
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Overview

About pediatric dyskeratosis congenita

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

Is it pediatric dyskeratosis congenita?

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 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

How we can help

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. 

  • Bone marrow transplant

Fighting pediatric cancer and blood disorders

At UW Health, we offer 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.

Search our clinical trials

Meet our team

The care your child needs

We care for your child as if they are our own

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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Locations

Quality care close to you

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. 

American Family Children's Hospital

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. 

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  • American Family Children's Hospital - Pediatric Hematology and Oncology
    • 1675 Highland Ave. / Madison, WI
    • (608) 263-6420
    • Closed now
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Patient and support services

You’re never alone

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)