Inherited epidermolysis bullosa: update on the clinical and genetic aspects

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.

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

“…EB is generally classified into four types, which vary in terms of severity, in relation to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (EBS) (with blisters within the epidermis); junctional epidermolysis bullosa (JEB) (blister formation occurs in the lamina lucida); dystrophic epidermolysis bullosa (DEB) (blister formation occurs below the lamina densa); Kindler syndrome (KS) (cleavage can occur at any level except in suprabasal layers) [61,62].…”

Review of the Latest Methods of Epidermolysis Bullosa and Other Chronic Wounds Treatment Including BIOOPA Dressing

“…Epidermolysis bullosa (EB) is a group of autosomal dominant and recessive disorders where injury leads to blistering and skin erosion [1,2]. Several different subtypes have been described, and the underlying molecular pathology involves mutations in at least ten different genes encoding structural proteins within the dermoepidermal junctions (DEJ) or primary epidermal keratinocytes.…”

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5

“…EB simplex (EBS) is the most common subtype of EB characterised by the fragility of the basal keratinocytes of the epidermis [5]. This weakness leads to bullous lesions of skin due to mechanical stress.…”

“…Hereditary EBS associated with pathogenic variants in KRT5 or KRT14 is predominantly inherited in an autosomal dominant manner, but also an autosomal recessive inheritance has been observed in rare families [5,6].…”