Abstract Inherited
epidermolysis bullosa is a group of
genetic diseases characterized by
skin fragility and blistering on the
skin and
mucous membranes in response to minimal
trauma.
Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of
skin in which blistering occurs
epidermolysis bullosa simplex (intraepidermal),
junctional epidermolysis bullosa (within the
lamina lucida of the
basement membrane),
dystrophic epidermolysis bullosa (below the
basement membrane), and Kindler
epidermolysis bullosa (mixed
skin cleavage pattern). Furthermore,
epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the
blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16
genes that encode
proteins essential for the integrity and adhesion of
skin layers have already been associated with different subtypes of
epidermolysis bullosa. The marked heterogeneity of the
disease, which includes
phenotypes with a broad spectrum of severity and many causal
genes, hinders its
classification and
diagnosis. For this reason,
dermatologists and geneticists regularly
review and update the
classification criteria. This
review aimed to update the
state of the
art on inherited
epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification
consensus, published in 2020.