Xeroderma Pigmento The life-threatening sun

Rare skin disease: sun eats the skin

07/05/2014

The skin disease Xeroderma Pigmentosum is very rare. While in the US one affected person meets one million healthy people, in the small Brazilian village Araras unusually many people with the rare disease live. Those affected are extremely sensitive to sunlight and have a very high risk of skin cancer. In Xeroderma Pigmentosum, the skin loses its ability to repair damage from UV radiation. The result is severe disfigurement.

Moonlight children: Because of skin disease, the sun must be avoided
In Araras, a small village in central western Brazil, the largest known group of people live with Xeroderma Pigmentosum (XP). The extremely rare skin disease, whose sufferers are colloquially referred to as moonshine children, often occurs in childhood. The cause is a genetic defect that causes the skin to lose its ability to regenerate after damage from UV radiation. When sunlight strikes the skin, inflammation and later wart-like tumors develop, which often develop into skin cancer. In most patients, especially the face, eyes and arms are most affected as these areas of skin are most exposed to the sun. If the disease is not detected in time, the skin cancer can spread rapidly and even lead to the death of the person affected. Since there is no cure for Xeroderma Pigmentosum, the patient usually has no choice but to protect themselves from the sun, in which they only leave their homes at night instead of during the day. This often leads to social isolation.

People with Xeroderma Pigmentosum are usually severely disfigured by the sun
For the people with Xeroderma Pigmentosum in Araras, the disease is particularly dramatic, since working outdoors in agriculture is often the only way to earn a living. „I was always exposed to the sun, "says 38-year-old Djalma Antonio Jardim „world“. He grew rice and fed cows. „Over the years my condition worsened. "In the meantime he can no longer afford to work in agriculture and Jardim has to cope with a small government pension and the income from an ice cream parlor.

Xeroderma Pigmentosum was also noticeable in childhood at the age of 38. In addition to many freckles were also swelling in the face occurred. At that time he was nine years old. Since Jardim at this time did not know which disease is behind the skin lesions, he did not avoid the sun. Today, the Brazilian wears a large straw hat and an orange mask to hide his face, which has been severely damaged by the sun. The skin on the lips, nose, cheeks and eyes were virtually eroded by UV radiation. He had to undergo more than 50 surgeries to have skin tumors removed.

According to the National Cancer Institute in the USA, about one in five people suffer from skin damage as well as spasticity, developmental delay, deafness or poor coordination skills.

Genetic defect causes Xeroderma Pigmentosum
Xeroderma pigmentosum usually occurs very rarely. In Araras, however, more than 20 of the 800 inhabitants are affected by the skin disease. Experts explain the disproportionately strong occurrence of the disease with the fact that the village was founded by only a few families. Some of the founding members carried the genetic defect and passed it on. In the case of Jardim, both parents were affected.

A village teacher, Gleice Francisca Machado, investigated and found cases of Xeroderma Pigmentosum dating back 100 years. Her eleven-year-old son also suffers from the disease. Machado founded an association to educate the locals. The teacher hopes to encourage parents to better protect their children through their work. „The sun is our biggest enemy and those affected would have to exchange the day for the night to live longer, "she told the newspaper," Unfortunately, this is not possible.

By the time Jardim learned what he was suffering from, many years passed. „The doctors I went to said I had a blood disorder, "Jardim told the newspaper. „Others said I have a skin problem. But no one said that I have a hereditary disease. "The Brazilian got the final diagnosis until 2010. (ag)