Xeroderma pigmentosum

Xeroderma pigmentosum (or synonymously melanosis lenticularis progressiva, also moonlight illness or light skin shrink, or " XP" ) is a skin disease due to a genetic defect and is assigned to the chromosome breakage syndromes. She is a very rare disease, regional differences, the frequency between 1:40,000 (Japan) and 1:250,000 ( USA); live in the United States about 250 people with documented Xp, in Germany about 80, most of whom are children. The life expectancy of these patients is untreated low, they usually die within the first decade of life.

As these individuals must avoid sunlight and, as mentioned, the majority are children, the colloquial term Mondscheinkinder exists for those affected.

Symptoms and complaints

Meetings UV rays on the skin of the patient, first form inflammation, later wart-like structures that can develop into malignant skin cancers. In particular, the usually sunlight exposed areas of skin such as the face, eyes and arms are affected. The disease increases the risk of skin cancer of the affected greatly.

Causes

Due to a genetic, autosomal recessive inherited defect that affects DNA repair enzymes, the skin can not regenerate after damage caused by sunlight. The disease is depending on the localization of the gene defect divided into seven types (AG ), where some of the genetic defects (A, B, D and G) associated with neurological disorders. If after the first symptoms ( inflammation of the skin that are exposed to the sun ), the disease is not diagnosed early right, they quickly leads to malignant and / or benign skin tumors ( such as basal cell carcinoma, keratoacanthoma, malignant melanoma or sarcoma) and subsequently to death.

Complications

The avoidance of UV radiation leads to a shift of the day -night rhythm and can lead to social isolation. There are in the United States first on sale this patient group for collective holiday camps, whereby the social isolation should be counteracted.

Treatments

Patients should be consistently shielded from any UV radiation; for example, by long clothing, tinted windows or UV resistant plastic film on the windows. In order to shield the person concerned from the harmful environmental influences, NASA has developed protective suits 15 years ago. They are made of the same material as the space suits of astronauts and protect them from life-threatening in this case the sun's rays. Due to the high production costs but these were never produced for XP patients. Dermatologists test the acne drug isotretinoin and various creams of bacterial protein.

So far, xeroderma pigmentosum can not be cured. It is important to detect the disease early, only to start immediately with a systematic treatment of the symptoms and complaints. The life expectancy of patients is very individual and depends on several factors. On average, it is 30 years. However, it is well documented cases in which the sixth decade of life has been reached.