Background: Epidermolysis bullosa (EB) is a rare inherited disorder characterized by skin and mucosal fragility, with severe implications for physical, psychological, and social well-being. Research on quality of life (QoL) in EB remains limited, particularly in Italy, where systematic patient-reported outcome measures are lacking. To address this gap, Fondazione REB ETS developed a patient-centered QoL questionnaire (QoL-REB) constructed directly by patients and caregivers, with support from clinicians and researchers.

Methods: We conducted a cross-sectional online survey between March and April 2024, recruiting Italian EB patients and caregivers through Fondazione REB and Debra Italia mailing lists. Participants completed the QoL-REB questionnaire, which assesses seven dimensions of QoL: physical health, autonomy, emotional well-being, family dynamics, social interactions, work/school life, and care experience. Responses were rated on a 4-point scale, with overall QoL assessed on a 0-10 scale.

Results: Forty-seven individuals with EB (38 adults, 9 minors; 55% female) participated, representing multiple EB subtypes, predominantly dystrophic EB (62.4%). Mean overall QoL was rated 6/10. Pain, itching, and reduced mobility emerged as the most frequent physical challenges. Over 70% of adults reported limited autonomy in daily activities, while children experienced difficulties with walking, dressing, and sports participation. Emotional distress was common, with patients expressing concerns about future prospects, body image, and dependence on others; 43% reported a need for psychological support. Family burden was evident, with both adults and minors perceiving themselves as a strain on relatives. Social limitations, workplace and school difficulties, and dissatisfaction with healthcare services-particularly a lack of EB-specific expertise in non-reference centers-were also reported.

Conclusions: This first Italian patient-led assessment highlights the pervasive and multidimensional burden of EB on QoL. Findings underscore the need for integrated, patient-centered care models that combine medical, psychological, and social support. The QoL-REB questionnaire provides a novel, comprehensive tool to capture the lived experience of EB and may serve as a framework for international adaptation and implementation.

Keywords: Epidermolysis bullosa; Patient-centered research; Patient-reported outcomes; Quality of life; Rare diseases.