Heart and Blood Conditions

Dyskeratosis Congenita

What is dyskeratosis congenita?

Dyskeratosis congenita (DC) (dis-ker-a-TOE-sis kon-JEN-et-a) is a rare bone marrow disorder. It is a genetic disease, which means it is usually inherited, or passed on in a family. DC can affect many different parts of your child's body.

Over time, many people with dyskeratosis congenita develop bone marrow failure. Bone marrow failure means the marrow inside the bones doesn't make enough of one or more kinds of blood cells the body needs. People with dyskeratosis congenita may have low levels of:

  • White blood cells, which fight infection (a low level of white blood cells causes neutropenia)
  • Red blood cells, which carry oxygen (a low level of red blood cells causes anemia)
  • Platelets, which help blood to clot (a low level of platelets causes thrombocytopenia)
  • All three kinds of blood cells (low levels of all three causes aplastic anemia)

Dyskeratosis congenita also is linked to other health conditions, including problems with:

  • Skin, nails and hair
  • Lungs
  • Bones
  • Blood
  • Digestive system
  • Immune system

Researchers are learning more about dyskeratosis congenita very quickly. For that reason, information you see about the condition in other places may be out of date. It is important to talk with your child's healthcare team when you have questions.

Dyskeratosis Congenita in Children

Dyskeratosis congenita is caused by a change (mutation) in genes. Sometimes, this change happens in a child with DC without being passed on by their parents. Most often, though, the genes that are not working correctly are passed to children by their parents. Some parents of children with DC may have the disease but might not have obvious signs of it.

Babies are born with dyskeratosis congenita. But symptoms of the disease may not show up for years, and sometimes even for decades. Some babies are diagnosed with dyskeratosis congenita soon after they are born. Other people do not get a diagnosis until they are adults. Most often, doctors find the disorder when a person is between 10 and 30 years old.

Doctors do not know exactly how common dyskeratosis congenita is, but they think it is rare.

Dyskeratosis Congenita at Seattle Children's

Dyskeratosis congenita is a rare, complex and serious condition. The way that healthcare providers diagnose and treat DC is changing quickly as researchers learn more. Your child needs care from experienced providers in several medical specialties with access to the most up-to-date information.

At Seattle Children's, our team includes top experts in:

Our multidisciplinary team understands how important it is to talk with you and with each other so that your child's care is both comprehensive and coordinated.

Seattle Children's works with the Seattle Cancer Care Alliance (SCCA) and the Fred Hutchinson Cancer Research Center to provide hematopoietic cell transplants (him-at-oh-poy-EH-tik) for children with DC and other diseases that affect the blood. This treatment replaces the cells that your child's disease has damaged with new cells. The Hutchinson Center is a leader in these transplants. Each year, we do transplants for about 40 to 50 children. Our team uses special transplant treatments (called reduced-intensity conditioning regimens) that we have developed specifically for children with dyskeratosis congenita.

Seattle Children's also works with our partners to do research on dyskeratosis congenita so we can understand the causes and develop better treatments. Researchers in Dr. Akiko Shimamura's lab are working to better understand inherited bone marrow failure syndromes like dyskeratosis congenita. Their goal is to learn more about the disorders and find new and better treatments.

We are actively involved in family groups and other efforts to help find out more about treating dyskeratosis congenita and to provide support for patients and families. These groups include Dyskeratosis Congenita Outreach.