{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T01:37:35Z","timestamp":1790127455450,"version":"4.0.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T00:00:00Z","timestamp":1748908800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T00:00:00Z","timestamp":1748908800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Discov Ment Health"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Introduction<\/jats:title>\n            <jats:p>Epidermolysis bullosa (EB) is a rare, chronic, incurable, multisystemic genetic disorder characterized by skin fragility, resulting in blistering from minimal trauma or spontaneously. Despite its physical impact, little is known about the mental health and quality of life (QoL) of those affected. This study aims to investigate these aspects in individuals with EB.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>A cross-sectional study was conducted in Brazil using a self-administered questionnaire and a convenience sample. Data on clinical-epidemiological characteristics, QoL (DLQI-BRA and QoLEB), and depression indicators (PHQ-9) were collected. Descriptive statistics and the Chi-square test were used, with a significance level of p\u2009&lt;\u20090.05.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The sample consisted of 31 patients, predominantly women (89.3%), with a mean age of 33.32\u2009\u00b1\u200911.3\u00a0years. The recessive dystrophic subtype was most common (54.8%), and depressive symptoms were present in 71%. PHQ-9 results revealed 29% had \u201cmild depression,\u201d 16.1% \u201cmoderate depression,\u201d 22.6% \u201cmoderately severe depression,\u201d and 3.2% \u201csevere depression.\u201d QoLEB indicated significant impairment in functional domains, while DLQI showed that 45.2% of patients experienced severe QoL impact. The most affected domains were leisure, symptoms and feelings, and daily activities.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The findings highlight the substantial impact of EB on mental health, QoL, and personal relationships. These results reinforce the need for early mental health screening and the integration of multidisciplinary care to optimize patient outcomes. Implementing structured psychological support, along with comprehensive dermatological and medical management, could mitigate the burden of the disease and enhance the overall well-being of affected individuals.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s44192-025-00209-2","type":"journal-article","created":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T11:56:54Z","timestamp":1748951814000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The impact of epidermolysis bullosa on quality of life and mental health"],"prefix":"10.1007","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6144-8519","authenticated-orcid":false,"given":"Guilherme","family":"Martins Freitas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4643-191X","authenticated-orcid":false,"given":"Louise Hernandes","family":"Claure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4116-2324","authenticated-orcid":false,"given":"Fabiana Antunes","family":"de Andrade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9982-6408","authenticated-orcid":false,"given":"K\u00e1tia Sheylla Malta","family":"Purim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,3]]},"reference":[{"issue":"5","key":"209_CR1","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1016\/j.abd.2020.05.001","volume":"95","author":"LM Mariath","year":"2020","unstructured":"Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol. 2020;95(5):551\u201369. https:\/\/doi.org\/10.1016\/j.abd.2020.05.001.","journal-title":"An Bras Dermatol"},{"issue":"1","key":"209_CR2","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/s41572-020-0210-0","volume":"6","author":"A Bardhan","year":"2020","unstructured":"Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH. Epidermolysis bullosa. Nat Rev Dis Prim. 2020;6(1):78. https:\/\/doi.org\/10.1038\/s41572-020-0210-0.","journal-title":"Nat Rev Dis Prim"},{"key":"209_CR3","doi-asserted-by":"crossref","unstructured":"DEBRA Brasil. Associa\u00e7\u00e3o DEBRA Brasil. 2024. https:\/\/debrabrasil.com.br\/. Accessed 15 Oct 2024.","DOI":"10.36019\/9781978839038-010"},{"key":"209_CR4","unstructured":"Ministry of Health of Brazil. Clinical protocol and therapeutic guidelines: hereditary and acquired epidermolysis bullosa. Bras\u00edlia: Conitec; 2021. https:\/\/www.gov.br\/conitec\/pt-br\/midias\/consultas\/relatorios\/2021\/20210920_ddt_eb_cp79.pdf. Accessed 20 Mar 2025."},{"key":"209_CR5","unstructured":"Ministry of Health of Brazil. Clinical protocol and therapeutic guidelines: hereditary and acquired epidermolysis bullosa. Bras\u00edlia: Conitec; 2019. https:\/\/www.gov.br\/conitec\/pt-br\/midias\/relatorios\/2019\/relatorio_epidermolise_bolhosa_496_2019_final.pdf. Accessed 20 Mar 2025."},{"key":"209_CR6","unstructured":"Pan American Health Organization. Mental disorders. 2024. https:\/\/www.paho.org\/en\/topics\/mental-disorders. 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Clin Exp Dermatol. 1994;19(3):210\u20136. https:\/\/doi.org\/10.1111\/j.1365-2230.1994.tb01167.x.","journal-title":"Clin Exp Dermatol"},{"issue":"9","key":"209_CR9","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1046\/j.1525-1497.2001.016009606.x","volume":"16","author":"K Kroenke","year":"2001","unstructured":"Kroenke K, Spitzer RL, Williams JB. The PHQ-9: validity of a brief depression severity measure. J Gen Intern Med. 2001;16(9):606\u201313. https:\/\/doi.org\/10.1046\/j.1525-1497.2001.016009606.x.","journal-title":"J Gen Intern Med"},{"key":"209_CR10","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"2013","unstructured":"American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Virginia: American Psychiatric Association; 2013. https:\/\/doi.org\/10.1176\/appi.books.9780890425596.","edition":"5"},{"issue":"6","key":"209_CR11","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1111\/j.1365-2133.2009.09347.x","volume":"161","author":"JW Frew","year":"2009","unstructured":"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(6):1323\u201330. https:\/\/doi.org\/10.1111\/j.1365-2133.2009.09347.x.","journal-title":"Br J Dermatol"},{"issue":"4","key":"209_CR12","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1007\/s10880-010-9205-4","volume":"17","author":"F Margari","year":"2010","unstructured":"Margari F, Lecce PA, Santamato W, Ventura P, Sportelli N, Annicchiarico G, Bonifazi E. Psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa. 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Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients. Br J Dermatol. 2024;191(5):737\u201345. https:\/\/doi.org\/10.1093\/bjd\/ljae242.","journal-title":"Br J Dermatol"},{"issue":"4","key":"209_CR15","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1111\/ijd.16197","volume":"62","author":"AV Chateau","year":"2023","unstructured":"Chateau AV, Blackbeard D, Aldous C. The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review. Int J Dermatol. 2023;62(4):459\u201375. https:\/\/doi.org\/10.1111\/ijd.16197.","journal-title":"Int J Dermatol"},{"issue":"1","key":"209_CR16","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.jclinepi.2006.03.012","volume":"60","author":"CB Terwee","year":"2007","unstructured":"Terwee CB, Bot SD, de Boer MR, van der Windt DA, Knol DL, Dekker J, Bouter LM, de Vet HC. Quality criteria were proposed for measurement properties of health status questionnaires. 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The Informed Consent Form used in this study informed participants that their data could be published for scientific purposes as long as anonymity and confidentiality were fully preserved. Therefore, participants were aware of and agreed to the possibility of anonymous data publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"83"}}