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Rothmund-Thomson Syndrome

Information about pediatric cancer genetics treatment, clinical trials, and research from Texas Children's Cancer Center. The Texas Children's Cancer Center's Cancer Genetics Program and the Cancer Genetics Team treats patients with Rothmund-Thomson syndrome.

Rothmund-Thomson Syndrome (RTS) is a very rare genetic disorder that is characterized by a unique skin rash, which starts in infancy and spreads to the rest of the body where it persists for life. Children and adults with Rothmund-Thomson syndrome also may have one or more of the following problems:

  • Sparse hair, eyebrows or eyelashes
  • Small stature
  • Bone deformities
  • Dental and nail abnormalities
  • Specific types of cancer, especially skin cancer (squamous cell and basal cell carcinoma) and bone cancer (osteosarcoma)

What is Texas Children’s Cancer Center doing to study and treat Rothmund-Thomson syndrome?

We are conducting research on the biology and genetic basis of Rothmund-Thomson syndrome (RTS) which is a rare medical disorder. Mutations in the RTS gene have recently been identified, and we are performing mutational analysis on a research basis on patients with RTS. We are also interested in learning more about the medical problems associated with RTS. Children or adults with this syndrome can have one or more of the following problems:

  • Unusual skin coloration beginning in early childhood (poikiloderma)
  • Cataracts at a very young age (juvenile cataracts)
  • Bone abnormalities
  • Sparseness of hair or eyebrows/eyelashes
  • Increased risk of certain types of cancer including skin cancers and bone cancers (osteosarcoma)
We are interested in identifying patients or families with this disorder anywhere in the United States or internationally. For families in the Houston area, children and adults with Rothmund-Thomson syndrome or related disorders can be evaluated in the Texas Children's Cancer Genetics Clinic. Families who are willing to travel to Houston can also be enrolled in our General Clinical Research Center (GCRC) study at Texas Children's Hospital and Baylor College of Medicine. Referring physicians may call 1-800-CANCER9.
Sharon Plon, MD, PhD