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From the age of 10, Deíde Freire de Andrade suffers from so many skin problems that he has even lost his nose. Now he is wearing a prosthesis.
Andrade is among the 17 inhabitants of Recanto das Araras, a town of 1,000 inhabitants located in the state of Goiás, suffering from a rare genetic disease and hereditary called xeroderma pigmentosum . XP)
Of the other 30 people in the same population who also had this disease, they have already died.
XP is not contagious and can affect men and women. Those who suffer from it have extreme sensitivity to ultraviolet radiation and which is why it affects areas of the body most exposed to the sun, such as the face and eyes.
patients a thousand times more likely to develop a skin cancer such as a melanoma
At present there is no cure nor treatment and there is virtually no medication to treat some of its symptoms.
"The best is prevention," says geneticist Carlos Menck, of the Institute of Biomedical Sciences of the University of Sao Paulo (ICB-USP), who has been studying the disease since 2010 in the # 39, hope to find a cure.
] "Those who suffer from it must protect themselves from the sun to the maximum, this will be the only way to avoid it, at least up to ten years."
The case of Recanto das Araras 260 km from Goiânia, state capital of Goiás, began to call attention in 2009, when the school director and owner of the local haberdashery, Gleice Machado, took her son, who was then 6 years old, to the consultation of the dermatologist Sulamita Chaibub, at the general hospital of Goiânia.
"I knew right away that there was something different about her skin," says the mother. "She had a lot of freckles and blisters coming and going very often."
During the visit, she told the doctor that where she lived, there were more people "with different skin".
"The doctor said that it was impossible because it was a rare disease."
Too many coincidences
"I went home, I gathered everyone, I took pictures and I took them to the doctor. "It was a shock when he realized that this was xeroderma pigmentosum but I also panicked because I knew the case of city dwellers mutilated or even dead. I imagined my son in this situation. "
After much research, contact and mobilize the right people, Machado has created an badociation of people affected by this disease with which he has achieved some success.
Today, the inhabitants of Recanto das Araras have priority at the Goiania General Hospital and the Ophthalmological Center of Hospital de las Clínicas (Cerof) .He also obtained the help of the State of Goiás to send sunscreens to people affected by xeroderma pigmentoso
In 2010, the Menck team, whose biologist Lígia Pereira Castro is part of it, arrived in Araras., in an attempt to identify the cause of the disease by means of DNA badyzes of certain carriers and relatives
A genetic mutation
"We have succeeded in identifying two mutations of the POLH gene (or XPV, Castro
Initially, the team gathered samples taken from the skin of three patients and their three parents. the first tests and sequencing of the DNA. Knowing that eight genes are involved in the disease, the researchers discovered that patients had a mutation in one of them : the POLH gene.
"After identifying the mutations, we developed a specific methodology to detect them, and we collected the saliva of the 17 carriers and all those who wanted to know if they had mutations," Castro explains.
They collected a total of 219 samples from nearly a thousand inhabitants of the community.
Patients with XP in this region between 2010 and 2018 are 1 out of 388 inhabitants one of the largest in the world, "explains Castro.On the planet, the average is 39, a case in a million people .
Lígia claims that the high incidence of skin cancer in patients with xeroderma pigmentosum is due to the lack of repair of lesions in DNA caused mainly by sunlight.
"This increases the frequency of mutations in the DNA and hence the induction of skin tumors, the the most exposed tissue to ultraviolet radiation ", explains
" In addition, the eye is a region very affected by this disease because many tumors result in blindness and often have to be removed, which has significant psychological consequences for the patient. "
Induced genes The production of proteins that repair DNA damage caused by the sun's ultraviolet rays is generated by the genes of unaffected people. Therefore, in healthy people, cells can continue their normal functions and cycles.
However, the carriers of XP do not generate these proteins and DNA damage is not corrected ] which accumulates and leads to all the problems that can cause the disease.
Life in the shadow
Regardless of all this technical information, the lives of those who have XP is not easy. They need to avoid the sun on all coasts . They go out alone at night or protect themselves with long pants and a long-sleeved shirt.
They must wear glbades, a hat and sunscreen for maximum protection. They must be applied frequently.
Machado's son, now 15 years old, is one of the people who must perform these routines.
"We live in a locality where the sun is strong all year with very high temperatures," explains the mother. "He uses all the protection that is recommended to him, but he is depressed, very shy, calm and has hardly any friends."
The young man has already undergone dozens of surgeries, mainly in the face, to avoid any sign of cancer. His mother regrets that in the middle of adolescence, his son can not do what he likes most: play football and go to the farm with his father.
"In a nutshell, her life comes down from home to school and she says that her school, at home and at the hospital, is following up with a dermatologist, among other specialists
Claudia Sebastiana Jardim da Cunha has been living this difficult routine for a longer time, and today she is 40 years old, but she knows since her childhood that four of her seven brothers and herself were suffering from A diagnosis of skin disease The diagnosis was only known by Sulamita in 2010.
"We have always had dry, irritated skin," he says.
"I do not have a good xeroderma pigmentosum for now, I avoid going out during the day, I wear clothes Yes, sunglbades and I have to put sunscreen in two hours. "
In the case of the farmer Deíde Freire de Andrade, his complaints are more than understandable.
" The mutilations and prejudices we face are facing many of us, it is something of very sad, "he laments, he has five brothers, two of whom are suffering from the disease.
" Today I live practically in the interior of the house without being able to leave, even ten minutes. walking even though it was a bit and even though I had to heal and protect myself with clothes and sunscreen. "
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