Dyskeratosis Congenita

What is dyskeratosis congenita (DKC)?

Dyskeratosis congenita (dis-ker-a-TOE-sis kon-JEN-et-a) is a rare bone marrow failure disorder. This means that the soft area in the center of most bones (marrow) does not make enough blood cells. People with DKC may have low levels of: 

  • White blood cells, which fight infection.
  • Red blood cells, which carry oxygen.
  • Platelets, which help blood to clot and stop bleeding.
  • All 3 kinds of blood cells. Low levels cause aplastic anemia

DKC is a complex condition and can affect many parts of your child’s body. But some children have no symptoms. A severe form of the disease is called Hoyeraal-Hreidarsson syndrome.

How DKC is diagnosed and treated is changing quickly as we learn more. For the best outcome, your child needs a team experienced in treating children with marrow failure conditions and other health problems that may arise. Our Bone Marrow Failure Program brings together many different types of healthcare providers to care for your child.

What causes DKC?

DKC is caused by a change (mutation) in a gene. 

  • Most often, the abnormal gene is passed to children by their parents. Some parents of children with DKC may have the disease but not show signs of it.
  • Less often, a child has the gene mutation but it is not inherited from a parent. 

Although DKC is present at birth, symptoms of the disease may not show up for many years. Most often, doctors find the disorder when a person is between 10 and 30 years old.

Dyskeratosis Congenita at Seattle Children’s

Experts in our Bone Marrow Failure Program have lots of experience caring for young people with inherited bone marrow failure syndromes, including DKC.

Our experience helps us know what to watch for and how to prevent and treat problems early. This increases the chances of successful treatment and helps your child feel better.

The Bone Marrow Failure Program is part of our Cancer and Blood Disorders Center. Please contact the center at 206-987-2106 for more information, a second opinion or to make an appointment.

  • Our physician-scientists are nationally known for treating children with marrow failure. They help set national standards for care of young people with blood disorders. The doctors who guide your child’s care are board certified in pediatric hematology. This means they are approved to give the specialized care your child needs and they constantly expand their knowledge about blood disorders.

    At Seattle Children’s, your child will get the treatment they need from top experts in: 

    Our cancer specialists are nationally known for treating children and teens with cancer. For the 25th year in a row, Seattle Children’s ranks among the nation's best children's hospitals, according to U.S. News & World Report.

    We offer a full range of treatments for children with DKC, including medicines and stem cell transplants.

    We care for your whole child – not just their disease. As needed, your child will receive care from specialists in nutrition, pain management, social work, physical therapy, psychology and emotional health. Read more about the supportive carewe offer.

    Our multidisciplinary team talks with each other – and with you – so your child gets all the care they need in a coordinated way.

  • For some children, a stem cell transplant, using young blood-forming cells from a healthy donor, may cure bone marrow failure. Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions, including DKC. Our transplant team is very experienced preparing children for transplant and helping them recover.

    For details on the number of stem cell transplants we do each year and survival rates for children who receive them, see our statistics and outcomes.

    We work closely with our partner Fred Hutch to perform the transplants. More than 30 years ago, Fred Hutch pioneered stem cell transplants to treat blood disorders.

  • Our patients have access to promising new options offered only in research studies, called clinical trials.

    We belong to national and international research groups that work to understand the causes of blood disorders, improve care and find cures. One such group is the North American Pediatric Aplastic Anemia Consortium (NAPAAC). It supports patients and families with bone marrow failure.

    Learn more about blood disorder research at Seattle Children’s.

  • A diagnosis of DKC can be stressful. We help take positive steps right away by offering appointments within 1 to 3 days to new patients with urgent needs. If needs are not urgent, new patients can be seen within weeks.

    During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

    Our child life specialists and social workers help your child and your family through the challenges of this condition. We connect you to community resources and support groups.

    At Seattle Children’s, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

    We are actively involved in efforts to improve treatment and support patients and families, such as Dyskeratosis Congenita Outreach.

  • Our specialty is treating children’s conditions while helping them grow up to be healthy and productive.

    Children don’t react to illness, injury, pain and medicine in the same way as adults. They need – and deserve – care designed just for them.

    Our experts base their treatment plans on years of experience and the newest research on what works best – and most safely – for children.

Symptoms of Dyskeratosis Congenita

For many years, doctors thought DKC was a skin disease that also affected the mouth and nails. People were diagnosed with the disease if they had 3 main symptoms: 

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

Doctors now know that people with DKC may have all or none of these symptoms. The symptoms may be severe or mild.

Many children with DKC develop bone marrow failure. If your child’s bone marrow doesn’t make blood cells properly, they may: 

  • Have more infections. This happens if your child has problems making infection-fighting white blood cells.
  • Be tired and have low energy. This is caused by not having enough red blood cells (anemia). Red blood cells carry oxygen to all the organs and tissues.
  • Have bleeding problems because of low platelet levels. Platelets make the blood clot and stop bleeding. 

Some children may have symptoms from other health problems DKC can cause. These may affect the eyes, brain, lungs, liver or immune system.

Diagnosing Dyskeratosis Congenita

DKC can be hard for doctors to diagnose because different people have different symptoms at different times in their lives. Diagnosing the condition is very important so treatment can start.

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

  • Asking about your child’s health and the health of family members
  • Examining your child for signs of the disease 

Next, we may suggest tests, such as: 

  • Blood tests to check the level of each kind of blood cell. This is called a complete blood count (CBC). We look at the blood cells under a microscope to help find the cause of the problem.
  • Bone marrow aspiration or biopsy.
  • Test for telomere length. Telomeres are structures at the ends of chromosomes that protect them from damage. In DKC, telomeres are very short.
  • Testing a sample of blood or spit (saliva) for changes (mutations) in the genes that are linked to DKC.
  • When a child is diagnosed with DKC, we usually consider testing other family members who might have it. Our genetic counselors can advise you about the pros and cons of genetic testing. They explain test results and your chance of having a child with DKC in a future pregnancy.

    Our genetic counselor also will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Treating Dyskeratosis Congenita

In treating DKC, doctors’ goals are to: 

  • Help manage the health problems that the condition causes
  • Cure bone marrow failure
  • Check for and treat cancers that may be caused by DKC 

Your child’s care plan depends on their illness. We watch your child closely and recommend the right treatments at the right time.

  • Children with DKC need regular check-ups and tests to find problems as soon as possible. That gives your child the best chance of successful treatment.

    In addition to bone marrow failure, DKC increases the chance of health problems that may affect the eyes, brain, lungs, liver or immune system. It raises the risk of cancers affecting the blood, head, neck and genitals.

    Your child may need: 

    • Blood tests and bone marrow tests to watch for signs of bone marrow failureleukemia or immune disorders.
    • Regular dentist visits for preventive care and to check the mouth for signs of cancer.
    • Yearly check-up by an ear, nose and throat (ENT) doctor starting at age 10. Children with DKC are at higher risk of cancer of the mouth, tongue or throat.
    • Breathing tests to measure how well their lungs work (pulmonary function tests). We start when your child is old enough to cooperate (usually 6 to 10 years). If there are problems, your child will get care from a lung specialist.
    • Checking their diet and measuring vitamin D levels in the blood to check bone health. Children with DKC are at higher risk of low bone density (osteopenia). If this is a concern, your child will see an endocrinologist.
    • Yearly exams to check for signs of cancer affecting the genitals, starting at age 18 for young women. It is important for both boys and girls to get the vaccine to protect against the human papillomavirus (HPV). HPV can cause cancers affecting the genitals. 

    Some children with DKC need other tests, including eye exams, imaging studies of the brain or studies of the digestive system.

  • Over the short term, doctors may treat bone marrow failure with medicines that help build up levels of blood cells. These include: 

    • Oxymetholone, an anabolic steroid that increases red blood cell production
    • Filgrastim (Neupogen), a granulocyte colony-stimulating factor that helps the bone marrow make more blood cells
  • For some children with DKC, treatment includes a transplant of blood-forming stem cells from a healthy donor (stem cell transplant). It is also called a bone marrow transplant or hematopoietic cell transplant. Hematopoietic (him-at-oh-poy-EH-tik) stem cells are young cells that grow into blood cells.

    This treatment works best in children and young adults with a sibling who is a match and can donate stem cells for the transplant. It is important to test any family member who will be a donor to make sure they have not also inherited DKC, even if they do not have symptoms.

    This treatment helps your child’s bone marrow make healthy blood cells. But a transplant does not improve problems with bones or lungs or other complications DKC can cause.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions, including marrow failure. Some children with DKC are too sick to tolerate the powerful drugs or radiation (called conditioning) that are usually used to prepare their bodies for the transplant. Our team – led by Dr. Lauri Burroughs – has developed better ways to prepare them, called reduced-intensity conditioning. We continue to fine-tune conditioning treatments to improve survival and reduce complications.

    We perform the transplants here at Seattle Children’s, working closely with Fred Hutch, our partner in the Seattle Cancer Care Alliance. Fred Hutch pioneered this lifesaving procedure and is one of the largest stem cell transplant centers in the world.

Contact Us 

If you would like an appointment, ask your child’s primary care provider for a referral.

If you have a referral or would like a second opinion, call the Cancer and Blood Disorders Center at 206-987-2106.

Providers, see how to refer a patient.