A Cross-sectional Study on Quality of Life in EB: Validation of the Italian QOLEB and Assessment in Italian Patients
DOI:
https://doi.org/10.2340/actadv.v106.adv-2026-0543Keywords:
Epidermolysis bullosa, health-related quality of life, pain, patient-reported outcome measure, symptom burden, femaleAbstract
Inherited epidermolysis bullosa comprises a heterogeneous group of skin fragility diseases, presenting with a range of manifestations and complications that profoundly affect quality of life (QoL). A disease-specific instrument, Quality of Life in EB (QOLEB), has been developed to assess the impact of epidermolysis bullosa signs and symptoms on QoL. The aim of this cross sectional study, conducted as part of a European project – BUR-EB, was to test the psychometric properties of the Italian version of the QOLEB and to assess QoL in Italian epidermolysis bullosa patients. Demographic, clinical, and QOLEB data of 56 Italian patients aged ≥11 years participating in the BUR-EB online survey were analysed. Principal component analysis showed excellent internal consistency of Italian QOLEB, and high convergent validity with the generic questionnaire EQ-5D. About 40% of patients reported severe to very severe disease burden, and a strong correlation was observed between disease severity and QOLEB scores. Independent variables associated with worse QoL were pain, chronic wounds, wheelchair use and patient organization membership. Our study confirms the good psychometric properties of the Italian QOLEB. In addition to depicting the major impact of epidermolysis bullosa on QoL, it identifies pain, chronic wounds and functional disability as major targets for therapeutic interventions.
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Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; 183: 614–627. DOI: https://doi.org/10.1111/bjd.18921
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, et al. Epidermolysis bullosa. Nat Rev Dis Primers 2020; 6: 78. DOI: https://doi.org/10.1038/s41572-020-0210-0
Has C, El Hachem M, Bučková H, Fischer P, Friedová M, Greco C, et al. Practical management of epidermolysis bullosa: Consensus clinical position statement from the European Reference Network for Rare Skin Diseases. J Eur Acad Dermatol Venereol 2021; 35: 2349–2360. DOI: https://doi.org/10.1111/jdv.17629
Lucky AW, Pope E, Crawford S. Dystrophic epidermolysis bullosa. 2006 (updated 2025). In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993 (updated 2026).
Chernyshov PV. The evolution of quality of life assessment and use in dermatology. Dermatology 2019; 235: 167–174. DOI: https://doi.org/10.1159/000496923
Finlay AY, Salek MS, Abeni D, Tomás-Aragonés L, van Cranenburgh OD, Evers AWM, et al. Why quality of life measurement is important in dermatology clinical practice: An expert-based opinion statement by the EADV Task Force on Quality of Life. J Eur Acad Dermatol Venereol 2017; 31: 424–431. DOI: https://doi.org/10.1111/jdv.13985
Snyder AM, Chen SC, Chren MM, Ferris LK, Edwards LD, Swerlick RA, et al. Patient-reported outcome measures and their clinical applications in dermatology. Am J Clin Dermatol 2023; 24: 499–511. DOI: https://doi.org/10.1007/s40257-023-00758-8
Chernyshov PV, Finlay AY, Tomas‐Aragones L, Poot F, Murrell DF, Pustisek N, et al. Quality‐of‐life measurement in epidermolysis bullosa. Position statement of the European Academy of Dermatology and Venereology Task Force on quality of life and patient‐oriented outcomes and external experts. Int J Dermatology 2025; 64: 1546–1557. DOI: https://doi.org/10.1111/ijd.17668
Frew JW, Martin LK, Nijsten T, Murrell DF. Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument. Br J Dermatol 2009; 161: 1323–1330. DOI: https://doi.org/10.1111/j.1365-2133.2009.09347.x
Arias-Merino G, Benito-Lozano J, Gómez-Martinez M, Villaverde-Hueso A, Linertová R, Alonso-Ferreira V. Health-related quality-of-life evaluation in epidermolysis bullosa: A scoping review. Br J Dermatol 2025; 193: 856–864. DOI: https://doi.org/10.1093/bjd/ljaf274
Frew JW, Cepeda Valdes R, Fortuna G, Murrell DF, Salas Alanis J. Measuring quality of life in epidermolysis bullosa in Mexico: Cross-cultural validation of the Hispanic version of the Quality of Life in Epidermolysis Bullosa questionnaire. J Am Acad Dermatol 2013; 69: 652–653. DOI: https://doi.org/10.1016/j.jaad.2013.04.053
Yuen WY, Frew JW, Veerman K, van den Heuvel ER, Murrell DF, Jonkman MF. Health-related quality of life in epidermolysis bullosa: Validation of the Dutch QOLEB questionnaire and assessment in the Dutch population. Acta Derm Venereol 2014; 94: 442–447. DOI: https://doi.org/10.2340/00015555-1758
Cestari T, Prati C, Menegon DB, Prado Oliveira ZN, Machado MCR, Dumet J, et al. Translation, cross-cultural adaptation and validation of the Quality of Life Evaluation in Epidermolysis Bullosa instrument in Brazilian Portuguese. Int J Dermatol 2016; 55: e94–9. DOI: https://doi.org/10.1111/ijd.12819
Dănescu S, Sălăvăstru C, Sendrea A, Tiplica S, Baican A, Ungureanu L, et al. Correlation between disease severity and quality of life in patients with epidermolysis bullosa. J Eur Acad Dermatol Venereol 2019; 33: e217–e219. DOI: https://doi.org/10.1111/jdv.15371
Yazdanshenas A, Naderi E, Moravvej H, Heidari K, Faghankhani M, Vahidnezhad H, et al. The quality of life in epidermolysis bullosa (EB-QoL) questionnaire: Translation, cultural adaptation, and validation into the Farsi language. Int J Womens Dermatol 2020; 6: 301–305. DOI: https://doi.org/10.1016/j.ijwd.2020.05.012
Villar Hernández AR, Molero Alonso F, Aguado Marín ÁJ, Posada de la Paz M. Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire. Int J Environ Res Public Health 2022; 19: 7059. DOI: https://doi.org/10.3390/ijerph19127059
Bishnoi A, Manjunath S, Kishore K, De D, Handa S, Murrell DF, et al. Hindi translation and validation of quality of life score in Indian patients with epidermolysis bullosa; and its correlation with the clinical severity assessment scores: A cross-sectional study. Indian J Dermatol Venereol Leprol 2022; 88: 177–183. DOI: https://doi.org/10.25259/IJDVL_31_20
Salamon G, Strobl S, Field-Werners U, Welponer T, Murrell DF, Diem A. Translation, cultural adaptation and validation of the German Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire. J Health Psychol 2025; 30: 1476–1490. DOI: https://doi.org/10.1177/13591053231221369
El Hachem M, Diociaiuti A, Zambruno G, Samela T, Ferretti F, Carnevale C, et al. “Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires. Ital J Pediatr 2024; 50: 76. DOI: https://doi.org/10.1186/s13052-024-01657-2
Arias-Merino G, Benito-Lozano J, Linertová R, Alonso-Ferreira V, on behalf the BUR-EB Study Group. Health-related quality-of-life evaluation in epidermolysis bullosa: Aa scoping review protocol. Syst Rev 2025; 14: 159. DOI: https://doi.org/10.1186/s13643-025-02918-9
Geroldinger M, Verbeeck J, Hooker AC, Thiel KE, Molenberghs G, Nyberg J, et al. Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials. Orphanet J Rare Dis 2023; 18: 391. DOI: https://doi.org/10.1186/s13023-023-02990-1
Frew J, Murrell DF. Improving clinical applications of quality of life scores in epidermolysis bullosa: Defining clinically significant outcomes in the QOLEB questionnaire. Mucosa 2019; 2: 68–75. DOI: https://doi.org/10.33204/mucosa.598339
Devlin N, Parkin D, Janssen B. Methods for Analysing and Reporting EQ-5D Data. 1st edn. Cham: Springer; 2020. DOI: https://doi.org/10.1007/978-3-030-47622-9
Guillemin F, Bombardier C, Beaton D. Cross-cultural adaptation of health-related quality of life measures: Literature review and proposed guidelines. J Clin Epidemiol 1993; 46: 1417–1432. DOI: https://doi.org/10.1016/0895-4356(93)90142-N
Karakaya SPY, Alparslan ZN. Sample size in reliability studies: A practical guide based on Cronbach’s alpha. PBS 2022; 12: 150. DOI: https://doi.org/10.5455/PBS.20220127074618
Terwee CB, Bot SDM, de Boer MR, van der Windt DAWM, Knol DL, Dekker J, et al. Quality criteria were proposed for measurement properties of health status questionnaires. J Clin Epidemiol 2007; 60: 34–42. DOI: https://doi.org/10.1016/j.jclinepi.2006.03.012
Finch AP, Meregaglia M, Ciani O, Roudijk B, Jommi C. An EQ-5D-5L value set for Italy using videoconferencing interviews and feasibility of a new mode of administration. Soc Sci Med 2022; 292: 114519. DOI: https://doi.org/10.1016/j.socscimed.2021.114519
Pérez-Sousa MÁ, Olivares PR, Ramírez-Vélez R, Gusi N. Comparison of the psychometric properties of the EQ-5D-3L-Y and EQ-5D-5L-Y instruments in Spanish children and adolescents. Value Health 2021; 24: 1799–1806. DOI: https://doi.org/10.1016/j.jval.2021.07.006
Hancock KJ, Glass N, Anthony CA, Hettrich CM, Albright J, Amendola A, et al. Performance of PROMIS for healthy patients undergoing meniscal surgery. J Bone Joint Surg Am 2017; 99: 954–958. DOI: https://doi.org/10.2106/JBJS.16.00848
Bruckner AL, Losow M, Wisk J, Patel N, Reha A, Lagast H, et al. The challenges of living with and managing epidermolysis bullosa: Insights from patients and caregivers. Orphanet J Rare Dis 2020; 15: 1. DOI: https://doi.org/10.1186/s13023-019-1279-y
So JY, Fulchand S, Wong CY, Li S, Nazaroff J, Gorell ES, et al. A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. Orphanet J Rare Dis 2022; 17: 270. DOI: https://doi.org/10.1186/s13023-022-02433-3
Slauson‐Blevins K, Johnson KM. Doing gender, doing surveys? Women’s gatekeeping and men’s non‐participation in multi‐actor reproductive surveys. Sociol Inq 2016; 86: 427–449. DOI: https://doi.org/10.1111/soin.12122
Lu H, Cole SR, Howe CJ, Westreich D. Toward a clearer definition of selection bias when estimating causal effects. Epidemiology (Sunnyvale) 2022; 33: 699–706. DOI: https://doi.org/10.1097/EDE.0000000000001516
Tang JY, Marinkovich MP, Lucas E, Gorell E, Chiou A, Lu Y, et al. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis 2021; 16: 175. DOI: https://doi.org/10.1186/s13023-021-01811-7
Hübl V, Strobl S, Salamon G, Has C, Group BS. The puzzling effect of disease severity on quality of life in epidermolysis bullosa. J Eur Acad Dermatol Venereol 2025. DOI: https://doi.org/10.1111/jdv.70191
Samela T, Raimondi G, Pintori G, Pupa MB, Cordella G, Antinone V, et al. Clinically mild hidradenitis suppurativa: Mild for whom? Br J Dermatol 2024; 191: 1026–1027. DOI: https://doi.org/10.1093/bjd/ljae310
Jeffs E, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, McGrath JA, et al. Pain in recessive dystrophic epidermolysis bullosa (RDEB): Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES). Orphanet J Rare Dis 2024; 19: 375. DOI: https://doi.org/10.1186/s13023-024-03349-w
Eng VA, Solis DC, Gorell ES, Choi S, Nazaroff J, Li S, et al. Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey. J Am Acad Dermatol 2021; 85: 1161–1167. DOI: https://doi.org/10.1016/j.jaad.2020.03.028
Zhao Y, Summers R, Gathara D, English M. Conducting cross-cultural, multi-lingual or multi-country scale development and validation in health care research: A 10-step framework based on a scoping review. J Glob Health 2024; 14: 04151. DOI: https://doi.org/10.7189/jogh.14.04151
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