Neurofibromatosis: a highly visible disease ... and yet unknown

Neurofibromatosis: a highly visible disease ... and yet unknown

Neurofibromatosis disfigures people with the most severe forms. And it forces them, as well as all other patients, even those less severely affected, to live in hiding. Things could improve thanks to shocking testimony that Guilhem Lignon delivered at the beginning of last July to Brutand that has been seen hundreds of thousands of times.
Guilhem has neurofibromatosis, a genetic disease that deforms part of his face. For 30 years, he has to face the eyes of others. Today, he has a message to convey … pic.twitter.com/Ijz1UuOM4A– Gross FR (@brutofficiel) July 6, 2018
Professor Pierre Wolkenstein, dermatologist and coordinator of the neurofibromatosis reference center at Henri-Mondor Hospital in Créteil (AP-HP), salutes the courage of this thirty-year-old. Interview.

Point: What made you interested in this disease?

Pierre Wolkenstein is a dermatologist and coordinator of the neurofibromatosis reference center at Henri Mondor Hospital in Créteil (AP-HP). © Pierre Touche Pierre Wolkenstein: In 1995-1996, a major professional conflict led me to change clinical themes and research. My boss at the time offered me to work on neurofibromatosis. I took this for a first class burial. I saw my first patient the following week – who was one of the first transplant recipients – and I was immediately convinced that we had to act, find solutions for these unfortunate patients.
At the time, this condition was not well known, there was talk of Recklinghausen disease. This is the most common rare genetic disease. It affects 20,000 patients in France. Of these, about 3,000 suffer from severe forms, such as Guilhem. Almost all of these people have cutaneous neurofibromas, small tumors on the body and face that multiply with age. You imagine life when the skin begins to bud at the age of 20 years … In a society where you need perfect skin, they dare not undress; their intimate relationships become more and more difficult with the worsening of the disease. They must, at work, in their efforts, transport … face the eye – often inquisitive and very morally destabilizing – of others. In addition, many patients have and have had learning difficulties. The association Neurofibromatoses and Recklinghausen has for some time chosen the slogan "Ose" to encourage the sick to show themselves, but it has a hard time convincing them. Thanks to the courage of Guilhem, a new course could be crossed.

What do we know today about this disease?

It is linked to the mutation of a gene, which was discovered in 1990 and the corresponding protein was cloned a year later. It is a tumor suppressor gene. When mutated, the cells are not able to regulate their growth. Not only does this cause very many benign tumors, but also an excess of cancer on large tumors and an increased risk of breast cancer. These cancers often appear in childhood and in young adults and the disease reduces the life expectancy of patients about ten years compared to the general population.

How can we treat it?

So far, the most spectacular way is surgery, especially with extreme facial grafting. We dermatologists destroy tumors by laser spraying. This technique leaves scars often very visible … that patients prefer to tumors. A scar is explained, not a tumor.
Research, particularly in the field of malignant melanoma, has led to the emergence over the past decade of drugs that cause a decrease in the volume of large tumors in children. For two years, we have animal models of the disease, which will greatly help us to test new treatments. We now also have cohorts of patients, and very high performance ultrasound techniques will help us detect micro-neurofibromas. We soon expect to have biomarkers to determine whether or not patients will have numerous neurofibromas, which would be ideal for very early treatment. Thanks to all this, we really hope to break the natural history of the disease.

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