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World Rare Disease Day 2022

February 28, 2022

By definition, a rare disease has a prevalence of 1/2,000. But rare diseases are numerous and would affect more than 3 million people in France, more than 300 million in the world!

Most of these diseases have no treatment. Nevertheless, many actors are mobilized in the fight against rare diseases to improve the diagnosis, care and follow-up of the patients concerned; research in this area also allows significant medical advances.

In 2021, we again had the opportunity to put our medical writing skills at the service of several rare diseases, including craniofacial microsomia, cystic fibrosis, and inherited epidermolysis bullosa.

Inherited epidermolysis bullosa is a group of genetic disorders characterized by skin and/or mucosal (lips, inside of the mouth, esophagus, anus, vagina, eye) fragility leading to the development of blisters and/or erosions and wounds. The severity is variable, ranging from moderate localized forms – allowing patients to have a life close to normal – to disabling and potentially lethal severe generalized forms.
At the cutaneous level, blisters usually form after minimal trauma or friction (clothes, shoes, etc.) but can also appear spontaneously. Depending on the form of the disorder, patients may present with other symptoms including muscle and/or dental damage, alopecia, esophageal or tracheal stenosis, etc. They may also suffer from complications (malnutrition, anemia, osteoporosis, chronic inflammatory syndrome, amyloidosis, depression, etc.) or healing abnormalities (budding and/or hemorrhagic wounds, superinfection, cutaneous squamous cell carcinoma).
To date, there is no curative treatment; patients benefit from preventive measures and specific daily skin care.
In the documentary film “Et les mistrals gagnants” directed by Anne-Dauphine Julliand, one of the children is suffering from epidermolysis bullosa.

We are delighted to participate in the fight against rare diseases for better patient care, and we thank our loyal customers as well as our new customers in this field for their trust and the quality of our collaborations.