The economic burden of epidermolysis bullosa: a scoping review

Background Epidermolysis bullosa (EB) is a phenotypically and genetically heterogeneous group of rare skin disorders characterised by mucocutaneous fragility. It is currently incurable, and management primarily focuses on wound care. While the implementation of DNA- and RNA-based therapeutic approaches represent promising avenues for EB management, their enormous costs mean comprehensive cost evaluations are needed to facilitate their effective introduction into clinical practice. This scoping review aims to provide a comprehensive overview of the reported costs and time investments of EB. Summary We performed a systematic literature search of the databases MEDLINE, Embase, Web of Science, Scopus, CINAHL, PsycINFO and EconLit covering the period between 2010 and 2025. We included English full text articles on patients with genetic EB, from any country or study setting, that reported on cost categories including quantification of costs or time investments. Twenty-two studies from 15 countries, published between 2013 and 2024, were included. Total sample size was 3046 patients with EB. Most studies (77%) used questionnaires and/or interviews completed by patients or primary caregivers as the primary data-collection method. Of the included studies, 73% reported direct non-healthcare costs, 59% direct healthcare costs and 27% indirect costs. Regardless of main EB-type or age category, the annual mean total economic burden per patient ranged from €42K to €77K. Analysis of time investments revealed that patient's dressings are typically changed daily, with the patient or caregiver spending up to two hours each day on care. Key messages The economic burden of EB is substantial, but it remains challenging to draw definitive conclusions about their exact magnitude due to heterogeneity in reporting. Further clarification of the current economic burden of EB care is essential for the cost evaluations and introduction of high-cost genetic therapies.