Xeroderma Pigmentosum | Genetic diseases

Xeroderma Pigmentosum

Xeroderma pigmentosum is a rare, hereditary disease in which certain enzymes in the skin of the affected individuals do not function. These enzymes normally repair the DNA, which can be damaged by sunlight or the UVB light it contains. The UVB damage can cause skin cancer in affected as well as in all other people, but in Xeroderma Pigmentosum, the process is accelerated by the lack of repair mechanisms.

As a result, affected individuals develop severe forms of skin cancer in childhood and adolescence and after a brief exposure to sunlight. A causal therapy is not yet possible. The affected people have to avoid sunlight for the rest of their lives, which has led to the nickname “moonlight children” for the affected (sometimes very young) persons.

In addition, these persons should be seen by a dermatologist for regular skin cancer screening in order to remove newly developed skin cancer immediately. If these measures are strictly followed, the life expectancy of a person with xeroderma pigmentosum is about as long as that of a non-affected person. You can find more about this disease on our Xeroderma pigmentosum page

Lynch syndrome

Lynch syndrome is a change in DNA that causes a defective enzyme in the body’s cells. With the persons concerned therefore a certain mechanism is defective, which is to protect otherwise the cells against degeneration, thus uncontrolled growth – persons with the lynch syndrome have to fall ill therefore a strongly increased risk at cancer. Frequently thereby the large intestine cancer occurs, since the cells divide here naturally anyway often and errors in the growth and death programming of a cell become faster noticeable.

The affected individuals often develop a tumor in the colon at an unusually young age, i.e. before the age of 50, which is then called HNPCC (hereditary non-polyposis colon carcinoma). However, not every person who has the genetic dispositions of Lynch syndrome also develops colon cancer. On the other hand, other organs can also develop a tumor, since the genetic dispositions that promote the development of a tumor are present in all body cells.Therefore, regular check-ups and preventive medical check-ups are necessary for persons affected by Lynch syndrome in order to adequately treat developing tumors at an early stage.