Dyskeratosis Congenita

What is dyskeratosis congenita?

Dyskeratosis congenita (DC) is a rare condition classified under a broad spectrum of genetic disorders known as telomere diseases. These diseases can often cause bone marrow failure and lung disease.

People with DC frequently develop unusual skin pigmentation patterns, nail discoloration, white patches in the mouth (oral leukoplakia) and are especially susceptible to conditions that impair bone marrow function, such as:

DC may also cause pulmonary fibrosis, a condition that leads to the accumulation of scar tissue in the lungs, decreasing the flow of oxygen into the bloodstream. 

Although congenital (present at birth), the signs and symptoms of dyskeratosis congenita often may not appear until late childhood or early adolescence, and in some cases, not until adulthood.

DC in its classic form is rare, estimated to affect approximately one person per million, but the broader spectrum of telomere disease may affect 10-100 times as many people.

How we care for dyskeratosis congenita

Our Bone Marrow Failure Treatment Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center has a specialized team that focuses on the treatment of children, adolescents and young adults with dyskeratosis congenita. This team is comprised of clinicians from a range of specialties, including those in our world-renowned Pediatric Stem Cell Transplant Program.

We have access to the most advanced treatments and diagnosis, including genetic mutation identification and ongoing clinical trials investigating new treatments. Our team is personally invested in finding solutions for those looking for answers.

Our areas of innovation for dyskeratosis congenita

We are using our vast resources within Dana-Farber/Boston Children's to find new ways to improve the lives of people with dyskeratosis congenita. Our research involves a comprehensive range of activities, including:

  • improving diagnosis
  • creation of the Clinical Care Consortium for Telomere Associated Ailments (CCCTAA) to facilitate multi-institutional clinical and translational research and improve care for patients with dyskeratosis congenita and other telomere biology disorders.
  • stem cell transplant clinical trial to test the safety and efficacy of SCT for dyskeratosis congenita without using radiation or alkylators (expected to significantly decrease short- and long-term toxicities)
  • pediatric myelodysplastic syndrome (MDS) and Bone Marrow Failure (BMF) registry, an NIH-supported collaborative research effort established at Dana-Farber/Boston Children’s in 2009 to identify dyskeratosis congenita genes
  • research on the genetics and mechanisms of disease in dyskeratosis congenita, as well as new treatment approaches
  • development of novel small molecule and genetic treatments