Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that primarily affects the skin, bones, and eyes. It is characterized by a variety of symptoms that typically appear in early childhood.
Skin abnormalities are a hallmark of RTS, including a distinctive rash that develops on the face and spreads to other areas of the body. This rash may worsen with sun exposure and can lead to thinning and scarring of the skin over time.
Bone abnormalities can also occur in RTS, such as slow growth, skeletal malformations, and an increased risk of developing osteosarcoma, a type of bone cancer.
Eye problems are common in individuals with RTS, including cataracts, which can cause vision impairment or blindness.
Other features of RTS may include short stature, thin hair, abnormal nails, and gastrointestinal issues.
RTS is caused by mutations in certain genes involved in DNA repair. It is inherited in an autosomal recessive manner, meaning both parents must carry a mutated gene for their child to be affected.
While there is no cure for RTS, treatment focuses on managing symptoms and preventing complications. Regular monitoring by a multidisciplinary medical team is essential to address the various aspects of the syndrome.