[Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].

[Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment]. Ann Dermatol Venereol. 2016 Dec 05;: Authors: Chiaverini C, Bourrat E, Mazereeuw-Hautier J, Hadj-Rabia S, Bodemer C, Lacour JP 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 involv...
Source: Annales de Dermatologie et de Cenereologie - Category: Dermatology Authors: Tags: Ann Dermatol Venereol Source Type: research