Clinical case of congenital epidermolysis bullosa in a newborn

Abstract

Congenital epidermolysis bullosa (VBE) is a group of hereditary orphan genodermatoses, phenotypically and genetically heterogeneous, characterized by the formation of blisters intradermally and subdermally on the skin and mucous membranes at the site of minimal pressure or friction. The frequency of occurrence is 1:50,000 and depends on the population. VBE affects both boys and girls equally. Inheritance occurs according to the autosomal dominant and autosomal recessive type. The pathogenesis is based on mutations in genes encoding structural proteins of the epidermis, which lead to lysis of keratinocytes and disruption of epidermal–dermal connections, resulting in the formation of bullous elements and erosion. There are four main groups of VBE, depending on the location of damaged proteins and the level of destruction: simple, intermediate, dystrophic and Kindler syndrome.