Epidermolysis bullosa: treatment and prevention

Abstract

Congenital epidermolysis bullosa is considered as a phenotypically and genetically heterogeneous group of genodermatoses caused by various mutations in the genes that control the synthesis of structural proteins of the skin, carrying out epider­mal-dermal bonds.In this article, we aimed to indicate the polymorphism of clinical manifestations of epidermolysis bullosa, which must be confirmed by immunohistochemical studies.Numerous literature data were used on the clinical variants of epidermolysis bullosa, which consider not only 4 classical forms of the disease (simple, boundary, dystrophic and Kindlers syndrome), but also subtypes of each form of genoderma­tosis. Separately we discussed issues related to conducting immunohistological research in various forms of epidermolysis bullosa, when the localization of such protein components as collagen type IV, laminin and others was determined with the help of special antiserums. It was noted that the gold standard for histological examination in patients with epidermolysis bullosa is immunohistological methods that allow determining the deposition of immunoglobulins and complement components in the skin by means of the immunofluorescence method.Each nosological form of epidermolysis bullosa has genetic (study of genealogical charts) features of inheritance and an immunohistologic characteristic, which makes it possible to conduct differential diagnostics with other varieties of epidermolysis bullosa.Not in all cases, the clinical findings of epidermolysis bullosa can help to make the correct diagnosis and determine the specific form of epidermolysis bullosa. In this regard, additional research methods are important, including genetic ones, conducted in the process of adequate symptomatic therapy.