title: [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
abstract: Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome. Clinically suspected diagnosis is confirmed by immunohistochemical examination of a skin biopsy at specialized centres in order to determine the level of cleavage and the deficient protein. This first step may be followed by genetic analysis. The severity of the disease is highly variable, ranging from localized forms with little effect on quality of life to rapidly lethal forms. In generalized severe forms, the extent and chronicity of lesions, as well as mucosal involvement, can lead to systemic complications: malnutrition, pain, joint contractures, chronic inflammation, amyloidosis, cutaneous squamous cell carcinoma. Some specific forms are associated with other cutaneous signs (nail involvement, alopecia, hyperpigmentation, palmoplantar keratoderma) or extracutaneous involvement (muscular dystrophy or pyloric atresia). No curative treatment of EB is available today. EB requires multidisciplinary medical care, nursing, psychological and social management. This is best provided by a specialized network, involving reference centres, centres of expertise and daily caregivers. The goal of treatment is the prevention and treatment of lesions with specific non-adherent dressings and the prevention, detection and treatment of complications. It is essential not to traumatize the skin (bandaging, friction, etc.). Protein, gene or cell replacement therapy, and allogeneic bone marrow, cord blood or pluripotent stem-cell transplantation are currently being assessed. The aim of these French recommendations (national diagnostic and treatment protocol [PNDS]) is to provide healthcare professionals with guidance on the course of EB and on optimal patient management.
authors.affiliation: Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France.
authors.forename: C
authors.initials: C
authors.lastname: Chiaverini
authors.affiliation: Service de dermatologie, centre de référence des maladies génétiques cutanées (MAGEC), hôpital Saint-Louis, CHU Paris - groupe hospitalier Saint-Louis - Lariboisière F.-Widal, 1, avenue Claude-Vellefaux, 75010 Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Bourrat
authors.affiliation: Service de dermatologie, centre de référence des maladies dermatologiques rares, hôpital Larrey, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex 9, France.
authors.forename: J
authors.initials: J
authors.lastname: Mazereeuw-Hautier
authors.affiliation: Service de dermatologie, filière maladies rares de la peau (FIMARAD), centre de référence des maladies génétiques cutanées (MAGEC), hôpital Necker-Enfants-Malades, AP-HP, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors.forename: S
authors.initials: S
authors.lastname: Hadj-Rabia
authors.affiliation: Service de dermatologie, filière maladies rares de la peau (FIMARAD), centre de référence des maladies génétiques cutanées (MAGEC), hôpital Necker-Enfants-Malades, AP-HP, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors.forename: C
authors.initials: C
authors.lastname: Bodemer
authors.affiliation: Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France. Electronic address: lacour@unice.fr.
authors.forename: J-P
authors.initials: JP
authors.lastname: Lacour
mesh_terms: D003937:Diagnosis, Differential; D004820:Epidermolysis Bullosa / Q000145:classification / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy*; D005602:France; D006801:Humans; D017410:Practice Guidelines as Topic; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology*
keywords: Centre de compétence maladies rares; Centre de référence maladies rares; Centre of Expertise for Rare Diseases; Hereditary epidermolysis bullosa; National protocol for diagnosis and care; PNDS; Protocole national de diagnostic et de soins; Recommandations; Recommendations; Reference Centre for Rare Diseases; Épidermolyse bulleuse héréditaire