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Background In contrast to clinical diagnosis via external examination, patient-related outcome measures (PROMs) allow access to patients' internal perceptions. In the case of epidermolysis bullosa (EB) – a rare disease characterized by a wide variety of symptoms and individual disease courses – it is important to integrate the patient's perspective into diagnostic processes. The Instrument for Scoring Clinical Outcomes of Research for EB (iscorEB) is an EB-specific measurement tool, combining a clinician score (iscorEB-c) and a patient questionnaire (iscorEB-p). Objectives The aim of this study is to establish the iscorEB-p as an independent PROM tool by exploring its psychometric properties. Methods Sample-based psychometric testing and evaluation were performed on data collected via a multinational online cross-sectional study. Results Data analysis was performed with n = 95 participants across all EB types. The reliability and internal consistency of the iscorEB-p was excellent (α = 0.90). Principal component analysis with a varimax rotation resulted in a two-factor solution, explaining 55.6% of the total variance, with the distinct factors 'everyday life functioning' and 'specific EB symptoms'. Convergent validity was shown by high correlations to the Satisfaction With Life Scale (r = –0.52, P < 0.001), the Quality of Life in Epidermolysis Bullosa questionnaire (r = 0.72, P < 0.001) and the Epidermolysis Bullosa Family Burden of Disease questionnaire (r = –0.73, P < 0.001). Conclusions The iscorEB-p is a reliable and valid instrument to assess patient-reported health status of people with EB. [ABSTRACT FROM AUTHOR]

Objective: Although Ireland has one of the highest levels of well‐being in Europe, having a health condition has been found to have a direct negative impact. The aim of this study is to evaluate the current situation and the experiences of patients with epidermolysis bullosa (EB), a rare genetic skin disease, and their relatives living in Ireland, with a focus on burdens and helpful practices. Methods and Measures: In a mixed‐methods design, a series of standardised questionnaires were combined with open‐ended questions. Via an online survey, data from n = 59 EB patients and relatives of EB patients living in Ireland were collected. Results: EB affects both the patients and their relatives. Burdens were found in relation to the visibility of EB, the degree of severity, the current health status, reduced mobility, the financial impact of EB, the psychosocial impact and personal and social resources. The paper also analyses existing resources and highlights opportunities for support and needs of improvement. Conclusion: Quality of life with EB is influenced by somatic symptoms and the psychosocial burden. Individual helpful practices in dealing with this rare disease can be considered as mediators, but they need to be supported by structural and healthcare improvements. Patient or Public Contribution: The perspective of EB patients, their relatives and EB experts were taken into account in the development of the study design via two feedback loops with the EB patient organisations DEBRA Ireland and DEBRA Austria. The design was adapted accordingly. Additionally, by including open‐ended questions, patients and relatives could contribute their individual perspectives and add insights into their lives with EB that might not have been captured with the structured online survey alone. [ABSTRACT FROM AUTHOR]