Dyskeratosis congenita

Also known as: DC, DKC, short telomere disease, dyskeratosis congenita syndrome, dysfunctional telomere maintenance.

What is dyskeratosis congenita?

Dyskeratosis congenita is a rare form of bone marrow failure, (which results in decreased numbers of red blood cells, white blood cells and platelets) with associated skin/nail abnormalities, and thickened white patches in the mouth.

Other abnormalities that may also be found include, short stature, eye and teeth changes, lung, liver and gut abnormalities and others. There may be an increased risk for leukemia and cancer.

What causes dyskeratosis congenita?

Dyskeratosis congenita is usually inherited from one or both parents, but may result from a spontaneous genetic mutation.

What are the symptoms of dyskeratosis congenita?

Symptoms of dyskeratosis congenita include dark, discolored skin, gray or flat skin, or light areas, most commonly on the neck, shoulders or face. The nails also have fissures or don’t grow properly. Finally, thick, white and mucous-filled patches affect the mouth.

Other complications can occur over time from bone marrow failure, or other organ abnormalities.

What are dyskeratosis congenita care options?

Careful, regular examination and monitoring with a variety of tests plus early and ongoing treatment with many different medications and procedures are available to manage your child.

Stem cell transplant is a potential cure for the bone marrow failure.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: March 25, 2022 11:19 AM