{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T02:12:08Z","timestamp":1784772728644,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100024216","name":"College of Health Sciences, University of KwaZulu-Natal","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100024216","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolysis bullosa (EB) is a rare, heterogeneous genodermatosis characterized by skin fragility due to inherited defects in genes encoding proteins that maintain epidermal\u2013dermal integrity. The severity and complications of EB vary by subtype, and no cure currently exists. The epidemiology is unknown in South Africa.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This prospective observational study in KwaZulu\u2010Natal correlated African Zulu EB patients' phenotypic features with genotypic and histological findings. Whole\u2010exome sequencing, electron microscopy, and immunofluorescence mapping were used to identify EB subtypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fourteen of the 15 patients recruited initially were confirmed to have EB, while one was excluded due to poor clinicopathological\u2010genetic correlation. Junctional EB (JEB) was identified in 11 patients, with 10 cases linked to a recurrent homozygous pathogenic variant in <jats:italic>LAMB3<\/jats:italic>, causing severe JEB, and one to <jats:italic>ITGA3<\/jats:italic> with an unusual variant of interstitial lung disease, nephrotic syndrome, and EB (ILNEB). Two patients had autosomal dominant EB simplex, both with heterozygous <jats:italic>KRT14<\/jats:italic> variants, and one had dominant dystrophic EB associated with a heterozygous <jats:italic>COL7A1<\/jats:italic> variant. Eleven patients presented during the neonatal period, with a mean survival of four weeks, highlighting a high mortality rate, especially in the severe JEB cases. The cohort exhibited a balanced sex distribution, with no clear cases of consanguinity observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>JEB, with a recurrent pathogenic variant in <jats:italic>LAMB3<\/jats:italic>, emerged as the predominant subtype among African Zulu patients, underscoring the critical need for early diagnosis and tailored management strategies in resource\u2010limited settings. Integrating clinicopathological and genetic data is essential for accurate diagnosis and prognosis, emphasizing the importance of advanced diagnostic tools in improving outcomes for EB patients in South Africa.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.17843","type":"journal-article","created":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T23:56:14Z","timestamp":1747266974000},"page":"1425-1433","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The Spectrum of Epidermolysis Bullosa in KwaZulu\u2010Natal, South Africa"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9825-6191","authenticated-orcid":false,"given":"Antoinette","family":"Chateau","sequence":"first","affiliation":[{"name":"Department of Dermatology Grey's Hospital, Pietermaritzburg, University of KwaZulu\u2010Natal, School of Clinical Medicine  Durban South Africa"},{"name":"Department of Dermatology Nelson R. Mandela School of Medicine, University of KwaZulu\u2010Natal  Durban South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7146-7159","authenticated-orcid":false,"given":"Thirona","family":"Naicker","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Medical Genetics School of Clinical Medicine, University of KwaZulu\u2010Natal  Durban South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0438-768X","authenticated-orcid":false,"given":"Cassandra","family":"Bruce\u2010Brand","sequence":"additional","affiliation":[{"name":"Division of Anatomical Pathology Faculty of Medicine and Health Sciences, Stellenbosch University  Cape Town South Africa"},{"name":"National Health Laboratory Service, Tygerberg Hospital  Cape Town South Africa"},{"name":"JDW Pathology  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5187-6756","authenticated-orcid":false,"given":"Johann","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Anatomical Pathology Faculty of Medicine and Health Sciences, Stellenbosch University  Cape Town South Africa"},{"name":"National Health Laboratory Service, Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7199-9160","authenticated-orcid":false,"given":"Colleen","family":"Aldous","sequence":"additional","affiliation":[{"name":"University of KwaZulu\u2010Natal, School of Clinical Medicine  Durban South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2425-3905","authenticated-orcid":false,"given":"Ncoza","family":"Dlova","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nelson R. Mandela School of Medicine, University of KwaZulu\u2010Natal  Durban South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4732-602X","authenticated-orcid":false,"given":"Hui\u2010Ching","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Chun Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0048-7056","authenticated-orcid":false,"given":"Pei\u2010Chi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Chun Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7320-5870","authenticated-orcid":false,"given":"Hsin\u2010Yu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Chun Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4365-4533","authenticated-orcid":false,"given":"Chao\u2010Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Chun Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3708-9964","authenticated-orcid":false,"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology, King's College  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,14]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18128"},{"key":"e_1_2_11_3_1","unstructured":"Statistics South Africa \u201cMid\u2010Year Population Estimates \u201d2024 https:\/\/www.statssa.gov.za\/?p=17440."},{"key":"e_1_2_11_4_1","unstructured":"Statistics South Africa \u201cCensus \u201d2022 https:\/\/census.statssa.gov.za\/#\/."},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abd.2020.05.001"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.03.052"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.03.053"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15221"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.12.004"},{"issue":"10","key":"e_1_2_11_11_1","first-page":"1309","article-title":"Bioethics for Clinicians: 14. 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