Abstract
Purpose
Individuals with epidermolysis bullosa (EB) present with various clinical manifestations of different severities that affect quality of life (QoL). This systematic review synthesizes the current evidence about the QoL of individuals with EB.
Methods
We included observational studies with people of all age groups, both sexes, and any EB type. Studies with qualitative methodology, chapters of books, meeting proceedings, and abstracts were excluded.
Results
In this study, 12 articles comprising 745 individuals were included. More than half of the articles observed lower QoL in individuals with recessive dystrophic EB (RDEB) or junctional EB (JEB). Three articles indicated that EB affected QoL more in women than in men, and one article identified that children with EB suffered more than adults with the disease. Pain was frequently reported. Seven articles identified difficulty in sports, two identified a need for bathing assistance, and three identified eating difficulties. Additionally, participants reported that family relationships and friendships were affected, and they experienced feelings of anxiety and depression. Some of the instruments used evaluated QoL in general dermatologic conditions, and one was specific to EB.
Conclusion
QoL is more affected in people who have RDEB and JEB. Regarding sex and age, women and children need special care in their monitoring. It is necessary that guidelines on pain management be more disseminated and put into practice. Future studies should use standardized specific instruments to assess the QoL in EB individuals, while considering the particularities of the different age groups.
Similar content being viewed by others
References
Fine, J. D., & Mellerio, J. E. (2009). Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part I Epithelial associated tissues. Journal of American Academy of Dermatology,61(3), 367–384.
Intong, L. R., & Murrell, D. F. (2012). Inherited epidermolysis bullosa: New diagnostic criteria and classification. Clinical Dermatology,30(1), 70–77.
Siañez-González, C., Pezoa-Jares, R., & Salas-Alanís, J. C. (2009). Congenital epidermolysis bullosa: A review. Actas Dermo-Sifiliográficas,100(10), 842–856.
de Oliveira, Z. N. P., Périgo, A. M., Fukumori, L. M. I., et al. (2010). Imunomapeamento nas epidermólises bolhosas hereditárias. Anais Brasileiros de Dermatologia,85(6), 856–861.
Haynes, L. (2006). Nutritional support for children with epidermolysis bullosa. British Journal of Nursing,15(20), 1097–1101.
Fine, J. D., Bruckner-Tuderman, L., Eady, R. A., et al. (2014). Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. Journal of American Academy of Dermatology,70(6), 1103–1126.
Zidorio, A. P. C., Dutra, E. S., Leao, D. O. D., et al. (2015). Nutritional aspects of children and adolescents with epidermolysis bullosa: Literature review. Anais Brasileiros de Dermatologia,90(2), 217–223.
Sebaratnam, D. F., McMillan, J. R., Werth, V. P., et al. (2012). Quality of life in patients with bullous dermatoses. Clinical Dermatology,30(1), 103–107.
Sebaratnam, D. F., Okawa, J., Payne, A., et al. (2015). Reliability of the Autoimmune Bullous Disease Quality of Life (ABQOL) questionnaire in the United States. Quality of Life Research,24(9), 2257–2260.
The WHOQOL Group. (1995). The World Health Organization quality of life assessment (WHOQOL): position paper from the World Health Organization. Social Science and Medicine,41(10), 1403–1409.
Both, H., Essink-Bot, M. L., Busschbach, J., et al. (2007). Critical review of generic and dermatology-specific health-related quality of life instruments. Journal of Investigative Dermatology,127(12), 2726–2739.
Frew, J. W., Martin, L. K., Nijsten, T., et al. (2009). Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: An EB-specific quality of life instrument. British Journal of Dermatology,161(6), 1323–1330.
Liberati, A., Altman, D. G., Tetzlaff, J., et al. (2009). The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: Explanation and elaboration. PLoS Medicine,6(7), e1000100.
McGowan, J., Sampson, M., Salzwedel, D. M., et al. (2016). PRESS peer review of electronic search strategies: 2015 Guideline statement. Journal of Clinical Epidemiology,75, 40–46.
Moola, S., Munn, Z., Tufanaru, C., et al. (2017). The Joanna Briggs Institute Critical Appraisal tools for use in JBI Systematic Reviews Checklist for Case Series. Adelaide: The Joanna Briggs Institute.
Eismann, E. A., Lucky, A. W., & Cornwall, R. (2014). Hand function and quality of life in children with epidermolysis bullosa. Pediatric Dermatology,31(2), 176–182.
Yuen, W. Y., Frew, J. W., Veerman, K., et al. (2014). Health-related quality of life in epidermolysis bullosa: Validation of the Dutch QOLEB questionnaire and assessment in the Dutch population. Acta Dermato Venereologica,94(4), 442–447.
Brun, J., Chiaverini, C., Devos, C., et al. (2017). Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. Orphanet Journal of Rare Disease,12(1), 1–8.
Cestari, T., Prati, C., Menegon, D. B., et al. (2016). Translation, cross-cultural adaptation and validation of the Quality of Life Evaluation in Epidermolysis Bullosa instrument in Brazilian Portuguese. International Journal of Dermatology,55(2), e94–e99.
Dănescu, S., Sălăvăstru, C., Sendrea, A., et al. (2019). Correlation between disease severity and quality of life in patients with epidermolysis bullosa. Journal of European Academy of Dermatology and Venereology,33(5), e217–e219.
Horn, H. M., & Tidman, M. J. (2002). Quality of life in epidermolysis bullosa. Clinical and Experimental Dermatology,27(8), 707–710.
Jeon, I. K., On, H. R., & Kim, S. C. (2016). Quality of life and economic burden in recessive dystrophic epidermolysis bullosa. Annals of Dermatology,28(1), 6–14.
Kýrová, J., & Bučková, H. (2013). Kvalita života pacientů s epidermolysis bullosa. Czecho-Slovak Dermatology/Cesko-Slovenska Dermatologie, 88(3).
Tabolli, S., Sampogna, F., Di Pietro, C., et al. (2009). Quality of life in patients with epidermolysis bullosa. British Journal of Dermatology,161(4), 869–877.
Margari, F., Lecce, P. A., Santamato, W., et al. (2010). Psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa. Journal of Clinical Psychology in Medical Settings,17(4), 333–339.
Reyna, M. J. Á., González, R. M. T., & Salas-Alanís, J. C. (2016). Estrés y calidad de vida en pacientes con epidermólisis ampollar. Derma Cosmética y Quirúrgica,14(2), 112–118.
Ware, J. E. Jr., & Sherbourne, C. D. (1992). The MOS 36-item short-form health survey (SF-36): I. Conceptual framework and item selection. Medical Care, 30(6), 473–483.
Finlay, A. Y., & Khan, G. (1994). Dermatology Life Quality Index (DLQI)—A simple practical measure for routine clinical use. Clinical and Experimental Dermatology,19(3), 210–216.
Lewis-Jones, M. S., & Finlay, A. Y. (1995). The Children’s Dermatology Life Quality Index (CDLQI): Initial validation and practical use. British Journal of Dermatology,132(6), 942–949.
Chren, M. M., Lasek, R. J., Quinn, L. M., et al. (1996). Skindex, a quality-of-life measure for patients with skin disease: Reliability, validity, and responsiveness. Journal of Investigative Dermatology,107(5), 707–713.
Cohen, J. S., & Biesecker, B. B. (2010). Quality of life in rare genetic conditions: A systematic review of the literature. American Journal of Medical Genetics A,152A(5), 1136–1156.
von der Lippe, C., Diesen, P. S., & Feragen, K. B. (2017). Living with a rare disorder: A systematic review of the qualitative literature. Molecular Genetics and Genomic Medicine,5(6), 758–773.
Chernyshov, P. V., Suru, A., Gedeon, I., et al. (2019). Epidermolysis bullosa-specific module of the Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire. Journal of European Academy of Dermatology and Venereology,33(3), 612–617.
Schräder, N. H. B., Yuen, W. Y., & Jonkman, M. F. (2018). Pain quality assessment scale for epidermolysis bullosa. Acta Dermato Venereologica,98(3–4), 346–349.
Goldschneider, K. R., Good, J., Harrop, E., et al. (2014). Pain care for patients with epidermolysis bullosa: Best care practice guidelines. BMC Medicine,12, 178.
Pope, E., Lara-Corrales, I., Mellerio, J., et al. (2012). A consensus approach to wound care in Epidermolysis Bullosa. Journal of American Academy of Dermatology,67(5), 904–917.
Denyer, J., & Pillay, E. (2012). Best practice guidelines for skin and wound care in epidermolysis bullosa. In DEBRA: International Consensus.
Haynes, L. (2007). Clinical practice guidelines for nutrition support in Infants and Children with EB. https://www.debra.org.uk/downloads/community-support/eb-clinical-practice-guidelines-nutrition-in-children-100613.pdf.
Hubbard, L. D., & Mayre-Chilton, K. (2015). Quality of life among adults with epidermolysis bullosa living with a gastrostomy tube since childhood. Quality of Health Research,25(3), 310–319.
Zidorio, A. P. C., Dutra, E. S., Castro, L. C. G., et al. (2018). Gastrostomy for epidermolysis bullosa. British Journal of Dermatology,179(1), 42–49.
Fine, J. D., & Hintner, H.(2009). In J. D. Fine & H. Hintner (Eds), Life with epidermolysis bullosa (EB) etiology, diagnosis, multidisciplinary care and therapy. Wien: Springer.
Fine, J. D., Johnson, L. B., Weiner, M., et al. (2004). Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clinical and Experimental Dermatology,29(2), 122–127.
Dures, E., Morris, M., Gleeson, K., et al. (2011). The psychosocial impact of epidermolysis bullosa. Quality of Health Research,21(6), 771–782.
Corbin, J., & Strauss, A. (1990). Basics of qualitative research: Grounded theory procedures and techniques. Thousand Oaks, CA: Sage Publications.
Funding
This study was funded in part by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior-Brasil (CAPES)-Finance Code 001.
Author information
Authors and Affiliations
Contributions
All authors contributed to the study conception and design. The material preparation, data collection, and analysis were performed by CCGT and APCZ. The first draft of the manuscript was written by CCGT, and all authors commented on previous versions of the manuscript. LH performed the final review with a significant contribution in her area of expertise. All authors read and approved the final manuscript.
Corresponding author
Ethics declarations
Conflicts of interest
The authors declare that they have no conflicts of interest.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Electronic supplementary material
Rights and permissions
About this article
Cite this article
Togo, C.C.G., Zidorio, A.P.C., Gonçalves, V.S.S. et al. Quality of life in people with epidermolysis bullosa: a systematic review. Qual Life Res 29, 1731–1745 (2020). https://doi.org/10.1007/s11136-020-02495-5
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11136-020-02495-5