Epidermolysis bullosa: Advances in research and treatment

Abstract

Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene‐, protein‐ and cell‐based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off‐licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti‐PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.

Family caregivers' lived experiences of caring for epidermolysis bullosa patients: A phenomenological study

“…In the present study, the primary family caregivers are either the parents or grandparents. There is currently no cure for any subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain (Prodinger, Reichelt, Bauer, & Laimer, 2019). Wound care and dressing changes are an important daily activity for caregivers of patients living with EB.…”

Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa

“…The number of innovative local or systemic treatment modalities is constantly growing, including approaches of protein, cell and gene therapy as well as symptom-relieving therapies targeting key mediators of aberrant molecular pathways [4]. In addition there is a steady increase in the number of investigational products, which are currently being tested in clinical trials [5][6][7].…”

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

“…Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorders characterized by marked fragility of epithelial tissues with prototypic blistering, erosions, and nonhealing ulcers following minimal rubbing or frictional trauma [1][2][3][4][5][6][7][8][9][10]. EB is classified into four major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely, epidermolysis bullosa simplex (EBS; intraepidermal skin separation), epidermolysis bullosa junctional (EBJ; skin separation in lamina lucida or central basement membrane zone (BMZ)), dystrophic epidermolysis bullosa or epidermolysis bullosa dystrophica (EBD; sublamina densa BMZ separation), and Kindler syndrome (multiple cleavage planes) [2-4, 6, 8, 11-14].…”