Dyskeratosis Congenita

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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.

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 (inherited). Some parents of children with DKC may have the disease but not show signs of it.
Less often, a child has the genetic mutation but it is not passed down 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.

Cancer and Blood Disorder Care at Seattle Children's

Our team treats children, teens and young adults, including those with the hardest-to-treat cancers and blood disorders. We provide treatment options that many centers do not offer.

Symptoms of Dyskeratosis Congenita

The symptoms of DKC may be severe or mild. Some children have 1 or more of these 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

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

Have more infections because of problems with white blood cells
Be tired and have low energy because they do not have enough red blood cells (anemia)
Have bleeding problems because of low levels of platelets

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.

Genetic counseling and testing

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, our goals are to:

Help manage the health problems that DKC 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.

Regular check-ups to find and treat problems
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 failure, leukemia 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, such as eye exams, imaging studies of the brain or studies of the digestive system.
Medicine
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
Stem cell transplant

For some children with DKC, treatment includes an infusion of blood-forming stem cells from a healthy donor. This is called a stem cell transplant or bone marrow transplant or hematopoietic (him-at-oh-poy-EH-tik) cell transplant.

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. 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 keep improving the conditioning treatments to increase survival and reduce complications.

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

Dyskeratosis Congenita at Seattle Children’s

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.

Experts in our Bone Marrow Failure Program have lots of experience caring for young people with inherited bone marrow failure syndromes such as 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. If you would like an appointment, ask your primary care provider to refer you. If you have a referral or would like a second opinion, contact the center at 206-987-2106.

Providers, see how to refer a patient.

The experts you need for complete care
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 will guide your child’s care are board certified in pediatric oncology-hematology. This means they are approved to give the special care your child needs, and they constantly expand their knowledge about blood disorders.

We bring together many different types of healthcare providers to care for your child. Based on your child’s needs, they will be treated by top experts in:
- Bone marrow disorders
- Cancer and blood disorders
- Lung disease (pulmonary)
- Liver or digestive system (gastroenterology)
- Immune system problems (immunology)
- Genetics
- Dentistry
- Ears, nose and throat (otolaryngology)
- Eye disorders (ophthalmology)
- The nervous system (neurosciences)
Our multidisciplinary team talks with each other – and with you – so your child gets all the care they need in a coordinated way.

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 care we offer.
Among the nation’s best children’s hospitals

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

Our physician-scientists help set national standards for care of young people with blood disorders. We provide the most advanced treatments in our region.

Children do not react to illness, pain and medicine in the same way as adults. They need – and deserve – care designed just for them. We plan your child’s treatment based on years of experience plus the newest research on what works best – and most safely – for children.
Better outcomes from stem cell transplants

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. Our transplant team is very experienced in 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 Hutchinson Cancer Center to perform the transplants. Fred Hutch pioneered stem cell transplants and is one of the largest stem cell transplant centers in the world.
National leaders in research to improve care and outcomes

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.
Support for your whole family

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 1 or 2 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. They can 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.