Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a genetic disorder that affects the skin and other parts of the body. People with this condition commonly have a distinctive facial rash known as poikiloderma. In addition, there may be other features such as sparse scalp hair, missing or sparse eyelashes and eyebrows, and juvenile cataracts. Along with these skin and eye findings, growth delays before and after birth may lead to short stature. Skeletal abnormalities, including issues with the arms (radial ray defects), and signs of premature aging are also seen in people with RTS. There is an increased risk of certain cancers, and these features characterize the overall presentation of the syndrome.

Common symptoms include a characteristic facial rash (poikiloderma), short stature due to growth delays, and sparse scalp hair along with sparse or absent eyelashes and eyebrows. Other signs can include juvenile cataracts, skeletal abnormalities, and radial ray defects. Some individuals experience features of premature aging.

Rothmund-Thomson syndrome is described as a genodermatosis, which means it is a genetic disorder affecting the skin and other parts of the body. Specific genetic details or risk factors are not provided in the available information.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition. The increased risk for certain cancers is noted, making ongoing monitoring important.

Information about current research and future directions is currently limited for this condition.