Xeroderma pigmentosum: the strange skin mutation that can make you lose your nose

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Courtesy of Deíde Freire de Andrade

From the age of 10, Deíde Freire de Andrade suffers from so many skin problems that he has even lost his nose. He is now wearing a prosthesis.

Andrade is among the 17 inhabitants of Recanto das Araras, a city of 1,000 inhabitants of the state of Goiás, suffering from a rare genetic disease and hereditary called xeroderma pigmentosum . XP).

Thirty other persons belonging to the same population who were also affected by this disease have already died.

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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 melanoma

At present there is no treatment or 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 l & # 39; 39, hope to find a cure. [19659007] "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."

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Courtesy of Carlos Menck [Carlos Menck]. 19659004] Image caption

The Genetis Carlos Menck with his colleagues Lígia Castro and Veridiana Munford, the team that in 2010 came to Recanto das Araras to try to identify its cause through DNA.

The case of Recanto das Araras, 260 km from Goiânia, capital of the state of Goiás, began to attract attention in 2009, when the school director and owner of the local haberdashery, Gleice Machado, took his son, He was 6 years old at the consultation of the dermatologist Sulamita Chaibub, at the general hospital of Goiania.

"I immediately knew 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 her visit, she told the doctor that where she lived, there were more people "with different skin"

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"The doctor said that it was impossible because it was a rare disease."

Too many coincidences

"I went home, I gathered everyone, took pictures and took them to The Shock when he realizes that it was xeroderma pigmentosum .I also panicked because I knew the case of townspeople mutilated or even mutilated. 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 success.

Today the inhabitants of Recanto das Araras have priority at Goiania General Hospital and at the ophthalmological center of Las Clínicas Hospital (Cerof). He also obtained the help of the State from Goiás to send sunscreens to people affected by xeroderma pigmentoso.

In 2010, the team from Menck went to Araras, whose biologist Lígia Pereira Castro, to try to identify the cause of the disease by means of DNA badyzes of some porters and parents.

A genetic mutation

"We identified two mutations of the POLH gene (or XPV, variant of xeroderma pigmentosum) that were introduced into the community independently, as if two rays had fallen in the same place," Castro reports.

Initially, the team took skin samples from three patients and their three parents for initial DNA testing and sequencing. Knowing that eight genes are involved in the disease, the researchers found 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 the 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, "says Castro.On the planet, the average is of 39, a case in a million people

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Lígia indicates that the high incidence of skin cancer in patients with xeroderma pigmentosum is due to the lack of repair of lesions in the DNA mainly because of the sunlight.

"This increases the frequency of mutations in DNA and hence the induction of skin tumors, 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."

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in humans who do not have this disease, the genes induce the production of proteins that repair the lesions of the brain. DNA, caused by the ultraviolet radiation of the sun. This is why, 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 the disease can cause.

Life in the shadow

Regardless of all this technical information, the life of someone who has XP is not easy. They need to avoid the sun on all coasts . They leave only at night or protect themselves with long pants and a long-sleeved shirt.

They must wear glbades, a hat and sunscreen with maximum protection. They must be applied frequently.

Machado's 15-year-old son 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 operations, mostly in the face, to avoid any signs of cancer. His mother regrets that in the middle of adolescence, his son can not do what he likes most: playing football and playing sports on the farm with his father.

school, and hospital, where he follows a dermatologist, among other specialists in the disease, "reveals.

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Claudia Sebastiana Jardim da Cunha lives this difficult routine over time. Today, she is 40 years old, but she knows since her childhood that four of her seven brothers and herself were suffering from a 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 I need sunglbades and I have to put sunscreen in two hours. "

In the case of Campesino Deíde Freire de Andrade, his complaints are more than understandable.

"The mutilations and prejudices that we are many are very sad," he laments. He has five brothers, two of whom have the disease.

"Today I live practically in the interior of the house without even being able to leave for ten minutes, even walking a little bit and even if I had to take medicine and protect myself with clothes and sunscreen. "

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