Genotype and phenotype features in pruriginous form of epidermolysis bullosa: clinical observations

Epidermolysis bullosa is a group of rare genetic skin diseases, the common feature of which is a tendency to form blisters and/or erosions on the skin and mucous membranes due to minimal trauma. Phenotypic manifestations and severity of epidermolysis bullosa depend on the genotype, while pathogenic variants in the same gene can lead to different forms of epidermolysis bullosa, inherited in both autosomal dominant and autosomal recessive patterns. Currently, more than twenty genes are known, pathogenic variants in which can lead to the development of various forms of epidermolysis bullosa. It is worth noting that causal variants in different genes can cause similar clinical phenotypes, which significantly complicates the understanding of the pathogenetic mechanisms of the disease. In addition to the association of individual genes with certain phenotypes, a correlation has also been established between specific variants within the same gene and the clinical severity of the disease. Phenotype variability in epidermolysis bullosa is observed both between different subtypes and within each of them — from cases with minimal and barely noticeable manifestations to severe forms with pronounced cutaneous and systemic lesions caused by significant disruption of the dermal-epidermal junction, including the basement membrane, adjacent basal keratinocytes and connective tissue structures.

This article presents cases of clinically identical manifestations — pruriginous rashes in different genotypes occurring in epidermolysis bullosa children.