Newer treatment modalities in epidermolysis bullosa

Abstract

The term epidermolysis bullosa (EB) refers to a group of hereditary skin blistering diseases. The group is clinically and genetically heterogeneous, but all EB forms are associated with mechanically induced skin blistering and fragility. The causative gene mutations of most EB types are known. The current international consensus classification contains four main types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS). The classification is based on the morphological level of blister formation. In EBS, the split is intra-epidermal, in JEB along the basement membrane and in DEB below the basement membrane. In Kindler syndrome, the dermal-epidermal junction is disorganized, and blisters can occur on all three levels. Each major EB type has further subtypes which may differ in terms of their genetic, biological or clinical characteristics. Traditionally, EB treatments have been symptomatic, but increasing understanding of disease etio-pathogenesis is facilitating development of novel evidence-based therapy approaches. First gene- and cell-based therapies are being tested at preclinical level and in clinical trials. New knowledge on secondary disease mechanisms has led to development and clinical testing of urgently needed symptom-relief therapies using small molecules and biologicals.

Management of epidermolysis bullosa simplex in pregnancy: A case report

“…Malnutrition, severe anemia and chronic infection may be associated and should be addressed [10]. Genetic counseling should be offered to patients, given the inheritance pattern [8,9,14], as evident from our case.…”

Losartan as disease modulating therapy for recessive dystrophic epidermolysis bullosa

“…2 Recent investigations demonstrated that a parallel pathway, involving signaling through the anti-fibrotic AT-2 and MAS receptors, can be a target in RDEB. 2 In RDEB, losartan-mediated TGF-b inhibition (Figure 3) effectively lessens signs of tissue inflammation. 3 At the EB World Congress, Dimitra Kiritsi, presented interim data on 18 patients in the trial (REFLECT-"Recessive dystrophic EB:…”

“…TGF‐b plays a role in inflammation and it can act in both pro‐ and anti‐inflammatory manner. Losartan is known to inhibit excessive TGF‐ß signaling in some, but not all, fibrotic diseases 2 . Recent investigations demonstrated that a parallel pathway, involving signaling through the anti‐fibrotic AT‐2 and MAS receptors, can be a target in RDEB 2 .…”

“…Losartan is known to inhibit excessive TGF‐ß signaling in some, but not all, fibrotic diseases 2 . Recent investigations demonstrated that a parallel pathway, involving signaling through the anti‐fibrotic AT‐2 and MAS receptors, can be a target in RDEB 2 . In RDEB, losartan‐mediated TGF‐b inhibition (Figure 3) effectively lessens signs of tissue inflammation 3 …”

A Novel Mutation p.L461P inKRT5Causing Localized Epidermolysis Bullosa Simplex

“…The phenotypic spectrum of EB is highly variable, and there are differences in severity and associated extraneous manifestations between different types of EB. However, all types of EB present with traumatic blistering and fragility 1 2 . Based on the level of the dermal-epidermal separation relative to the basement membrane, EB can be divided into four subtypes—simplex, junctional, dystrophic, and Kindler syndrome 3 .…”