What is Dyskeratosis Congenita (DC)?
Dyskeratosis congenita (DC) is an inherited disorder. Symptoms of DC may include abnormal skin pigmentation, abnormal nail growth, and white patches inside the mouth (leukoplakia). Children with DC are at risk to develop bone marrow failure, some cancers, and pulmonary problems.
What are the signs and symptoms of DC?
- Abnormal fingernails and toenails (dyskeratosis)
- Lacy rash on the face, neck, and chest
- White patches in the mouth (leukoplakia)
- Symptoms and signs related to low blood counts such as pale skin, fatigue, headaches, frequent fevers or infections, increased bruising or bleeding.
- Cancers of the solid organs (such as ‘head and neck’, esophagus, stomach, colon and rectum) and of the blood and bone marrow (leukemia)
How is DC diagnosed?
- Characteristic findings on physical examination.
- Blood tests to look at ‘telomere length’ (repeated sections of DNA at the ends of chromosomes are short in patients with DC).
- Blood tests for specific genetic testing (identifies mutations or errors linked with DC in some patients).
How is DC treated?
Medications to stimulate the production of white and red blood cells may be used, but the only cure for the blood complications of the disease is a bone marrow transplant. Supportive care includes regular evaluations of lung function and bone density.
About treatment for Dyskeratosis congenita at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at 612-813-5940.
If you are a health professional looking for consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free).