Work

Epidermolysis bullosa: understanding the disease, diagnosis, and advances in treatment strategies

Year: 2025

Type: article

Abstract: Epidermolysis bullosa (EB), a group of inherited genetic skin disorders, affects 34.8 individuals per million in the UK. It is characterised by severe skin fragility and blistering, categorised into four groups: simplex, junctional, dystrophic, and kindler. Dystrophic EB (DEB) is initiated via a pathogenic variant in the COL7A1, leading to type VII collagen (C7) deficiency and blistering at the dermal-epidermal junction (DEJ). With no cure and only two FDA-approved therapies, gene editing targeting stem cells offers a promising avenue for a permanent cure.

Source: Trends in Molecular Medicine

DOI: 10.1016/j.molmed.2025.05.009

Authors: Madalina Alexandru, Jemima E. Mellerio, Joanna Jacków-Malinowska

Institutions: King's College London, Guy's and St Thomas' NHS Foundation Trust

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $7,030