Rothmund-Thomson Syndrome

Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder affecting skin, bones, eyes, and overall growth.

This condition usually starts in early childhood, with symptoms like a red rash on the face that spreads to other body parts over time. This skin condition, poikiloderma, is a key sign of Rothmund-Thomson Syndrome.

Genetic counselling helps families understand inheritance and future risks. Managing Rothmund-Thomson Syndrome requires a multidisciplinary team, including dermatologists, orthopedic specialists, geneticists, and oncologists.

With proper care, individuals with Rothmund-Thomson Syndrome can improve their quality of life and manage complications effectively.

Rothmund Thomson Syndrome Causes

Rothmund-Thomson Syndrome (RTS) is a rare inherited disorder resulting from a mutation of the RECQL4 gene, whose protein product plays a key role in DNA repair and stability. Such disruption causes multiple developmental as well as health problems. The following are some leading causes of Rothmund-Thomson Syndrome:

Mutations in the RECQL4 Gene: The defect in the RECQL4 gene, which is essential for maintaining DNA integrity, is the most common cause of RTS. When this gene is mutated, it disrupts cell growth, repair, and division.
Autosomal Recessive Inheritance: RTS is inherited in an autosomal recessive manner, meaning a child must have two defective copies of the gene (one from each parent) to have the condition. Parents who have just one mutated gene do not have symptoms but can pass the disease to their children.
Genomic Instability: Deficient repair of damaged DNA means plenty of abnormal cells, which can cause symptoms like skeletal deformities and skin problems, as well as net an increased risk of cancers.
Possible Other Genetic Factors: Most RTS is caused by RECQL4 mutations. However, some RTS individuals do not have mutations in this gene, indicating that other unidentified genetic factors also play a role.

Get a second opinion from trusted experts and makeconfident, informed decisions.

Get Second Opinion

Rothmund-Thomson Syndrome Symptoms

Rothmund-Thomson Syndrome symptoms usually appear in infancy or early childhood and can affect the skin, bones, eyes, and teeth, and even increase the risk of cancer. Recognizing these symptoms early can help doctors provide better care and support.

Common Symptoms of Rothmund-Thomson Syndrome:

Skin Rash (Poikiloderma): A red, patchy rash that starts on the face, often spreading to the arms and legs. Over time, the skin may develop darker patches, areas of thinning, and small blood vessels becoming visible.
Short Stature: Children with Rothmund-Thomson Syndrome may grow slower, resulting in shorter height than others their age.
Bone Abnormalities: Some children are born with missing or underdeveloped bones in their arms, hands, or thumbs, affecting movement and physical development.
Eye Problems: Cataracts, which cloud the eye's lens, can develop at a young age, leading to vision issues.
Dental Issues: Delayed tooth eruption and poorly formed teeth are common.
Higher Cancer Risk: Individuals are at increased risk for osteosarcoma (a type of bone cancer) and skin cancer due to fragile skin and impaired DNA repair.

Rothmund-Thomson Syndrome Diagnosis

Diagnosing Rothmund-Thomson Syndrome requires clinical evaluation, genetic testing, and detailed medical history. Since the condition affects multiple systems, a step-by-step approach helps doctors confirm the diagnosis accurately.

Physical Examination: Doctors check for skin changes (like poikiloderma), short stature, skeletal problems, and other common signs.
Medical History: Family history and early childhood symptoms play a key role in diagnosing Rothmund-Thomson Syndrome.
Genetic Testing: Molecular testing identifies mutations in the RECQL4 gene that are responsible for most cases.
Imaging Tests: X-rays may detect bone abnormalities, especially in the arms and hands.
Specialist Consultation: Dermatologists, geneticists, and orthopedists work together to make an accurate diagnosis.

Rothmund-Thomson Syndrome Treatment

Treatment of Rothmund-Thomson Syndrome focuses on managing symptoms, improving quality of life, and reducing health risks linked to the condition.

Since there is no specific cure for Rothmund-Thomson Syndrome (RTS), treatment involves a combination of medical care, regular monitoring, and supportive therapies provided by a team of specialists.

Key aspects of the Treatment of Rothmund-Thomson Syndrome include:

Skin Care: Dermatologists recommend using sunscreen, protective clothing, and gentle skincare products to manage the characteristic rash (poikiloderma) and reduce the risk of skin cancer.
Orthopedic Care: Children with bone abnormalities may need surgeries to correct skeletal defects or physical therapy to support growth, mobility, and posture.
Cancer Surveillance: Since people with RTS have a higher risk of developing bone cancer (osteosarcoma) and skin cancers, regular screenings, imaging tests, and cancer risk assessments are essential for early detection and timely treatment.
Eye and Dental Care: Ophthalmologists monitor for cataracts, and dentists manage dental issues such as delayed tooth development.
Genetic Counseling: Families benefit from genetic counseling to understand inheritance patterns and future family planning.
Psychological Support: Emotional and mental health support helps families cope with the challenges of living with a rare genetic disorder.

Your health is everything - prioritize your well-being today.

Schedule Your Appointment

Living with Rothmund-Thomson Syndrome

Living with RTS entails navigating medical, emotional, and social challenges. Support groups and patient organizations offer valuable resources and foster a sense of community among affected families.

Empowering Patients and Families

Education and advocacy empower patients and families, enabling them to make informed decisions regarding care and management. Engaging with healthcare providers, staying informed about advances in research, and advocating for personalized care are crucial steps in managing RTS.

Find Our Specialists

Book Doctor Appointment