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 DC 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 one million, but the broader spectrum of telomere disease may affect 10-100 times as many people.

Mason, who was born with dyskeratosis congenita sits with Dr. Suneet Agarwal

Meet Mason.

A clinical trial bought him time, and a dedicated doctor offers hope.


How we care for DC

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 DC. 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 research for DC

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 DC 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 DC genes
  • research on the genetics and mechanisms of disease in DC, as well as new treatment approaches
  • development of novel small molecule and genetic treatments