Epidermolysis Bullosa in France: Management in the National Reference Center for Genodermatosis

For more than 20 years, the department of dermatology in the Necker Enfants Malades Hospital (Paris) has been organizing the coordination of an epidermolysis bullosa–specific multidisciplinary management. The French Ministry of Health distinguished this hospital as a reference center for rare diseases. MAGEC-Necker now aims to offer the best medical and social management of epidermolysis bullosa.

Since more than 20 years, the coordination of an epidermolysis bullosa (EB)–specific multidisciplinary management has been organized by our department of dermatology, in Necker Enfants Malades Hospital (Paris). There were 2 reasons for that: (1) We have a specific unit for children with severe dermatologic diseases (from birth to 18 years of age), and (2) the Necker Enfants Malades Hospital is a very famous and important pediatric hospital, with more than 400 beds for children and 200 beds for adults. This hospital is highly specialized in the treatment of genetic diseases and permits a multidisciplinary management of the pediatric patients with a qualified technical platform. Genetic counseling, prenatal diagnosis, and preimplantation genetic diagnosis are also possible. Therefore, a multidisciplinary medical and paramedical staff for EB has been meeting every month for 20 years.

In 2004, the French Ministry of Health decided to distinguish reference centers for rare diseases and to support them financially. Reference centers (RCs) have been distinguished because of their (1) ability to establish the right diagnosis of the types and subtypes of a rare disease, (2) ability to manage the patients correctly because of their experience and their highly adapted technical platform, and (3) research programs and publications. They are supposed to develop a national network for the rare diseases and elaborate precise guidelines, which should be followed by their partners called competence centers (CCs). RCs have also to develop new national and international programs of research, new therapeutics, and an epidemiologic registry. CCs follow the recommendations of the RCs, work closely with them to collect epidemiologic data, and take part in their research programs.

In 2004, our center was recognized as an RC for genodermatosis. The name of this RC is MAGEC, for the French name Maladies Genetiques à Expression Cutanée. MAGEC comprises of 3 dermatologic departments in Paris (departments of Necker Enfants Malades, St Louis hospital, and Avicenne hospitals). In 2005 and 2006, two other RCs have been identified for genodermatosis (Bordeaux-Toulouse with Alain Hovnanian for EB; Nice with Jean-Philippe Lacour and Gim Meneguzzi for molecular diagnosis concerning junctional EB). Since September 2009, Alain Hovnanian and his research team joined Necker Hospital in Paris.

MAGEC-Necker aims to offer the best medical and social EB management, with a rapid clinical, histologic, and molecular diagnosis. In the same vein, we have developed an active clinical research program in close correlation with a more fundamental one. Our aim is to improve, hoping to soon offer innovative therapies, such as genetic therapies. The clinical research consists of programs concerning pain management, nutrition, surgery/anesthesia, and skin management. The financial supports are insufficient but helpful for the development of EB-specific programs of therapeutic education and social integration (school and professional).

The organization of MAGEC-Necker consists of (1) a managing team formed by 5 specialized physicians (3 pediatric dermatologists, an anesthetist, and 1 for epidemiologic studies); 1 specialized nurse for EB nursing and therapeutic education; 1 social worker for the social integration; 1 secretary; 1 technician for the technical management of the skin biopsies; (2) a multidisciplinary task force of experts, including pediatric dermatologists, molecular and genetic specialists, a dietician and a nutritionist, a physical therapist, an occupational therapist, a plastic surgeon, a psychologist, and an anatomic pathologist, associated with the managing team (the managing team meets weekly, the task force monthly); (3) a specific space with adapted bathtubs for the organization of the homecoming, management of chronic conditions, and therapeutic education ( Fig. 1 ).