"Rothmund-Thomson Syndrome" – What Is It?
Rothmund-Thomson syndrome is a sporadic hereditary syndrome in which the stability of the chromosomes that carry the genetic material is disturbed. This results in a predisposition to cancer, which manifests itself in an increased incidence of bone tumors (osteosarcomas). The most characteristic feature is a reddening of the skin that begins in infancy, becomes chronic, and develops over the years into pigment disorders, atrophy, and increased vascularization (poikiloderma).
How Is "Rothmund-Thomson Syndrome" Diagnosed?
The diagnosis can be made clinically by an expert experienced in syndromes based on the characteristic changes. Molecular genetic evidence is provided by genetic analysis.
Clinical Presentation
Acute Phase
Inconspicuous skin at birth. At the age of 3-6 months, skin reddening begins, spreading from the top (face) to the bottom (buttocks and extremities), typically sparing the trunk of the body and accompanied by blistering.
Chronic Phase
Over months to years, the development of pigment changes (color changes of the skin with light spots = hypopigmentation or dark spots = hyperpigmentation), atrophy (thin skin), hypertrophy (thickened skin), and increased vascularity (telangiectasia), summarized under the term poikiloderma, which persists for life.
- Skin changes (poikiloderma)
- Thinning hair, eyebrows, eyelashes
- Calluses, especially on the soles of the feet
- Nail changes
- Short stature
- Gastrointestinal problems (nutritional disorders, chronic vomiting/diarrhea)
- Bone defects
- Bone substance reduction (osteoporosis)
- Dental abnormalities
- Eye problems
- Bone marrow failure
What Is the Risk of Cancer?
Bone tumors (osteosarcomas) and skin tumors are the most common tumors. The incidence is reported to be 30% for bone tumors and 5% for skin tumors with proven RTS.
What Is Known About the Development of "Rothmund-Thomson Syndrome"?
In a healthy state, DNA, which carries our genetic material, is stabilized by a specific enzyme. Due to the genetic defect in Rothmund-Thomson syndrome, this enzyme is no longer or not sufficiently produced. This leads to an increase in errors in the genetic material.
Is There Any Form of Treatment Available?
Treatment is primarily based on diagnosing the earliest possible complications and is carried out per the corresponding therapy recommendation.
Diagnosis of " Rothmund-Thomson Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Rothmund-Thomson Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
An initial x-ray examination is recommended to document bone defects before the age of 5 years. Annual dermatological and ophthalmological examinations are advisable, as are semi-annual dental check-ups. In addition, please consult your doctor if you experience any new symptoms.
Rothmund-Thomson Syndrome- What You Can Do Yourself
You Should Pay Attention to This
- Adhere to consistent sun protection measures (UV-A and UV-B protection)
- Avoid excessive exposure to sunlight
- Avoiding exposure to ionizing radiation
- Calcium and vitamin D supplementation if bone density is reduced and there is a history of bone fractures
- Pulsed laser therapy for telangiectasia if necessary
- If necessary, vitamin A derivatives for corneal development
Further Information
Patients can also register for the CPS registry at any time or have this done by their doctors. Furthermore, Rothmund Thomson syndrome is being researched in our companion projects, Liquid Biopsy and ADDress, so we encourage patients to register for these in addition to the CPS Registry.
Any further questions?
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