What is xeroderma pigmentosum?

Xeroderma pigmentosum is a genetic disease in which damage in the genetic material caused by UV radiation (e.g. sunlight) cannot be repaired. This results in a high risk of tumors developing in skin exposed to sunlight.

How is xeroderma pigmentosum diagnosed?

The diagnosis can be clinically made by an expert familiar with the disease on the basis of characteristic symptoms. Molecular genetic evidence is confirmed by a genetic analysis.

Clinical Presentation

  • Increased skin sensitivity to solar radiation (severe sunburn with blistering, skin redness after only minimal exposure to sunlight in around 60% of patients), freckle-like pigmentation changes in the face before the age of 2

  • Sunlight-related eye problems (light sensitivity, corneal irritation, eyelid changes)

  • Increased risk of developing skin cancer because of exposure to sunlight (basal cell carcinomas, squamous epithelial carcinomas, melanomas)

  • Neurological complications

What is the risk of cancer?

Skin tumors located in skin exposed to sunlight are the most common tumors. The risk of developing a basal cell carcinoma is more than 10,000 times higher, and the risk of developing a melanoma more than 2,000 times higher.

What causes xeroderma pigmentosum?

Due to an error in the DNA repair system, damage in the hereditary material caused by sunlight cannot be identified or repaired.

Is there a treatment?

The treatment mainly consists of diagnosing preliminary cancer stages as early as possible and is in line with the corresponding treatment recommendation.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

Skin examinations every 3 months are absolutely necessary for the early detection of precancerous stages and for consistent early treatment of them. Routine examinations by an ophthalmologist, ENT doctor, and neurologist every 6-12 months are recommended.

Self-Care and Support

What should I pay special attention to?

  • Avoid exposure to UV light: sunlight (UV-A and UV-B) or artificial radiation (UV-C, e.g. halogen lights)

  • Consistently wear clothing to cover the head, body, and eyes

  • Broad-spectrum sun screen with a high UV protection factor

  • Dietary supplementation with vitamin D if there is a deficit

  • Avoid tobacco consumption

  • Training in self-examination to check for abnormal pigmentation changes

Support Groups and Additional Information