Which are the symptoms of Rothmund-Thomson Syndrome?

Rothmund-Thomson Syndrome (RTS), also known as poikiloderma congenitale, is a rare genetic disorder that primarily affects the skin, bones, and eyes. It is characterized by a variety of symptoms that can vary in severity from person to person. The condition is caused by mutations in the RECQL4 gene, which is involved in DNA repair.

Skin abnormalities: One of the hallmark features of RTS is the development of a distinctive rash called poikiloderma. This rash typically appears during infancy or early childhood and is characterized by a mottled pattern of redness, pigmentation changes, and thinning of the skin. The rash usually affects the face, arms, and legs, but can also occur on other parts of the body. Over time, the affected areas may become more pronounced and develop small bumps or ulcers.

Growth and skeletal abnormalities: Individuals with RTS may experience growth retardation, resulting in short stature. They may also have skeletal abnormalities such as thinning of the bones (osteoporosis), delayed bone development, or abnormalities in the structure of the bones. These skeletal issues can lead to bone fractures and other complications.

Eye problems: RTS can affect the eyes in various ways. Some individuals may develop sensitivity to light (photophobia) or have decreased tear production, leading to dry eyes. Cataracts, which cause clouding of the lens, can also occur. Additionally, some individuals may have vision problems such as nearsightedness or farsightedness.

Hair and nail abnormalities: Hair and nail abnormalities are common in RTS. Affected individuals may have sparse or thin hair, and the hair may become prematurely gray. The nails can be brittle, ridged, or develop an abnormal shape.

Increased risk of cancer: Individuals with RTS have an increased risk of developing certain types of cancer, particularly osteosarcoma (a type of bone cancer) and skin cancer. Regular monitoring and early detection are crucial for managing this increased cancer risk.

Other features: Some individuals with RTS may have additional features such as short stature, intellectual disability, developmental delays, or abnormalities in the digestive system.

It is important to note that the symptoms and their severity can vary widely among individuals with RTS. Some individuals may only exhibit mild skin abnormalities, while others may experience more significant complications affecting multiple organ systems. Early diagnosis and ongoing medical management are essential for optimizing the quality of life for individuals with RTS.