"Xeroderma Pigmentosum" – What Is It?
Xeroderma pigmentosum is a genetic disease in which damage to the genetic material caused by UV radiation (e.g., sunlight) cannot be repaired. This results in a high risk of tumor development on sun-exposed skin.
How Is "Xeroderma Pigmentosum" Diagnosed?
An expert experienced in the disease can clinically make the diagnosis based on the characteristic symptoms. Genetic analysis provides molecular genetic evidence.
Clinical Presentation
- Increased skin sensitivity to sunlight (severe sunburn with blistering and reddening of the skin after only minimal exposure to sunlight in ~60% of patients), freckle-like pigment changes on the face before the age of 2 years
- Sunlight-related eye problems (light sensitivity, corneal irritation, eyelid changes)
- Increased risk of developing sunlight exposure-related skin cancer (basal cell carcinoma, squamous cell carcinoma, melanoma)
- Neurological complications
What Is the Risk of Cancer?
Skin tumors in the location of sun-exposed skin are the most common tumors. The risk of developing basal cell carcinoma is over 10,000 times higher, and the risk of developing melanoma is over 2,000 times higher.
What Is Known About the Development of "Xeroderma Pigmentosum"?
Due to a fault in the DNA repair system, damage to genetic material caused by sunlight cannot be recognized and repaired.
Is There Any Form of Treatment Available?
Treatment is primarily based on the earliest possible diagnosis of precancerous lesions. It is carried out in line with the corresponding therapy recommendation.
Diagnosis of " Xeroderma Pigmentosum" 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 " Xeroderma Pigmentosum" 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
Unnecessary 3-monthly dermatological examinations are recommended for the early detection of precancerous lesions and their consistent early treatment. Routine ophthalmologic, ear, nose, and throat, and neurological examinations every 6-12 months are also recommended.
Xeroderma Pigmentosum- What You Can Do Yourself
You Should Pay Attention to This
- Avoid UV light: sunlight (UV-A and UV-B) or artificial UV radiation (UV-C, e.g. halogen)
- Consistently wear head, body, and eye coverings
- Broad-spectrum sun protection with a high sun protection factor
- Food supplementation with vitamin D in case of deficiency
- Avoidance of tobacco consumption
- Training in self-examination for abnormal pigment changes
Further Information
Patients can also register for the CPS registry at any time or have this done by the doctors looking after them.
Furthermore, Xeroderma pigemntosum 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?
You can reach us by e-mail and telephone, or you can come to our consultation hours in person. For more information, please visit our contact page.
