Oral health status, treatment needs and oral health-related quality of life in patients with epidermolysis bullosa in Austria: a mixed-methods pilot study

Introduction Epidermolysis bullosa (EB) is a rare genetic disease with skin and mucosal fragility. Severe cases present major physical and psychological compromise, contributing to comorbidities and reducing oral health-related quality of life (OHRQoL). Despite a multidisciplinary oral healthcare approach is recommended for EB patients, there is not a specific pathway available in Austria. This study aims to explore the oral health status, oral health treatment needs and OHRQoL in Austrian patients with EB. Materials and methods A cross-sectional, mixed-methods and exploratory study with purposive sampling was conducted, combining clinical assessment with quantitative and qualitative data by using standardized questionnaires, including OHIP-14, COHIP, iscorEB-p, QOLEB, and open-ended questions. Extraoral and intraoral assessments were conducted, including PhOX as well as oral treatment needs. Quantitative data were analysed descriptively, while qualitative data were subjected to reflexive thematic analysis to explore recurring patterns and themes in participants' experiences. Results A total of 14 participants with genetic diagnosis of EB were included: EB simplex (EBS, n = 3) and dystrophic EB (dominant, DDEB, n = 1; and recessive, RDEB, n = 10). Participants living with RDEB exhibited poorer quality of life results (iscorEB- p = 39.4; QOLEB = 15.6), across all indexes compared to EBS (iscorEB- p = 17.3; QOLEB = 10.3), as well as worse oral health parameters and higher dental treatment needs. Most participants required preventive (84.6%), restorative treatment (76.9%), or speech therapy (69.2%). Compromised oral function was an important factor in QoL results and oral health assessment, but its improvement was not necessarily corresponding to oral treatment needs. Conclusion EB, particularly RDEB, has a significant impact on oral health and OHRQoL in Austrian participants. Compromised oral function strongly influences outcomes, but improvements do not always match treatment needs. This underscore the need for multidisciplinary management, including speech therapy, to improve their OHRQoL.