Dorothy FarrarXeroderma pigmentosum
Xeroderma pigmentosum is a skin disease that is inherited. It is also known as moonlight disease. The disease is very rare. In Germany only about 80 people suffer from it, most of whom are children.
What is xeroderma pigmentosum?
Xeroderma pigmentosum (melanosis lenticularis progressiva) is a hereditary skin disease . It is one of the chromosomal syndromes and is also known as light shrinking skin or moonlight disease. Without appropriate treatment, the life expectancy of patients is short. Death occurs in the first decade of life. Since children are primarily affected by Xeroderma pigmentosum (XP) and they have to avoid contact with the sun, they are also called moonlight children.
causes
The causes of xeroderma pigmentosum go back to human genes. Moonlight disease is caused by a defect in the DNA repair system. This actually has the task of repairing damage to the DNA caused by the UV rays of the sun. Due to this defect, the damage to the skin and mucous membrane cells can no longer be repaired. Therefore, thymidine dimers are synthesized in the skin cells by UV-B rays, which the earth’s atmosphere cannot filter out. The thymidine dimers are a connection between the thymidine building blocks.
In healthy people, the DNA repair system uses enzymes to break down these harmful compounds. However, because the system does not work in moonlight disease, the connections degenerate, resulting in the death of skin and mucous membrane cells. Even degeneration into cancer cells is possible. It is not uncommon for skin cancer to appear in children .
The genetic defect that triggers moonlight disease becomes noticeable through painful inflammation. These are not able to regenerate themselves. Depending on the location of the defective gene, doctors divide xeroderma pigmentosum into several types. Some of these not only result in hypersensitivity to solar radiation, but also trigger further damage. These can be movement disorders, hearing problems or reduced intelligence. For the development of the rare skin disease, it is necessary for both parents to have a corresponding predisposition.
symptoms and course
Typical symptoms of xeroderma pigmentosum:
- decreased intelligence
The symptoms of moonlight disease appear in early childhood. If the affected children stay in the sun for only a short time, this leads to significant skin burns. The affected skin areas show clear changes such as skin discolouration. These resemble freckles or are reddish-brown. The skin is extremely sensitive, which leads to scarring and shrinkage. In addition, telangiectasia occurs, in which the small blood vessels dilate.
In addition to benign growths , malignant tumors such as squamous cell carcinomas , basal cell carcinomas and melanomas are also found. It is not uncommon for Xeroderma pigmentosum to also affect the eyes. Photophobia is often one of the first symptoms of moonlight sickness. Keratitis (inflammation of the cornea) is also possible . Eventually, tumors also appear in the eyes.
About 20 percent of all patients also suffer from neurological disorders such as movement disorders or reduced intelligence. Furthermore, the skin is very dry and ages rapidly. In many patients, xeroderma pigmentosum takes an unfavorable course, since malignant tumors appear in numerous cases. Nevertheless, many sufferers live to be around 40 years old, although this depends on the type of genetic defect in question.
Diagnose
Moonlight disease is usually diagnosed based on its typical symptoms. By taking skin samples and blood samples , the doctor can determine whether DNA recovery occurs after sun exposure. Sometimes even the triggering genetic defect can be detected. If xeroderma pigmentosum occurs more frequently in certain families, a prenatal diagnosis during pregnancy is also possible. To do this, the doctor examines the child’s cells from the amniotic fluid . A fine cannula is inserted into the mother’s abdominal wall and some amniotic fluid is removed.
treatment and therapy
There is still no cure for xeroderma pigmentosum. To ensure protection against skin cancer , it is important that those affected consistently avoid exposure to sunlight. You should also avoid daylight. Otherwise, special clothing must protect the skin. The protective measures also include wearing special UV glasses and using skin creams that have a very high sun protection factor. The windows of the apartments in which the patients live must be coated with a special UV protective film.
In addition, sufferers must undergo regular check-ups with a dermatologist. In this way, it is possible to detect tumors on the skin at an early stage and treat them accordingly. Medical research is currently dealing with possible gene therapies to combat moonlight disease. The acne preparation isotretinoin is also being tested.
prevention
Since xeroderma pigmentosum is one of the genetically caused diseases, effective prevention is not possible. If a couple suffering from a genetic defect wish to have children, we recommend consulting a gynaecologist.
Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.