{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T20:04:05Z","timestamp":1769198645170,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T00:00:00Z","timestamp":1624233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/CG\/006\/2013"],"award-info":[{"award-number":["NMRC\/CG\/006\/2013"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/CG\/M003\/2017"],"award-info":[{"award-number":["NMRC\/CG\/M003\/2017"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB\u2010PA) with minimal skin involvement but severe protein\u2010losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the <jats:italic>ITGB4<\/jats:italic> gene encoding integrin \u03b24 protein. Parental testing confirmed inheritance of\u00a0frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C&gt;T\/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin \u03b24 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin \u03b24. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.<\/jats:p>","DOI":"10.1111\/pde.14668","type":"journal-article","created":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T11:40:03Z","timestamp":1624275603000},"page":"908-912","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Epidermolysis bullosa with pyloric atresia associated with compound heterozygous <i>ITGB4<\/i> pathogenic variants: Minimal skin involvement but severe mucocutaneous disease"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5395-0734","authenticated-orcid":false,"given":"Lynette Wei Yi","family":"Wee","sequence":"first","affiliation":[{"name":"Dermatology Service KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-6058","authenticated-orcid":false,"given":"Ene Choo","family":"Tan","sequence":"additional","affiliation":[{"name":"Research Laboratory KK Women's and Children's Hospital Singapore Singapore"},{"name":"Genetics Service KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya","family":"Bishnoi","sequence":"additional","affiliation":[{"name":"Dermatology Service KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8364-4025","authenticated-orcid":false,"given":"Yi Zhen","family":"Ng","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology and Skin Research Institute of Singapore Agency for Science, Technology and Research (A*STAR) Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4170-7507","authenticated-orcid":false,"given":"Declan Patrick","family":"Lunny","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology and Skin Research Institute of Singapore Agency for Science, Technology and Research (A*STAR) Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hwee\u2010Woon","family":"Lim","sequence":"additional","affiliation":[{"name":"Research Laboratory KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siew\u2010Peng","family":"Lee","sequence":"additional","affiliation":[{"name":"Research Laboratory KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Ong","sequence":"additional","affiliation":[{"name":"Paediatric Gastroenterology KK Women's and Children\u2019s Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Te Lu","family":"Yap","sequence":"additional","affiliation":[{"name":"Paediatric Surgery KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yee Hui","family":"Mok","sequence":"additional","affiliation":[{"name":"Children\u2019s Intensive Care KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei Yi","family":"Low","sequence":"additional","affiliation":[{"name":"Paediatric ENT KK Women's and Children's Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3869-5234","authenticated-orcid":false,"given":"Cristelle","family":"Chu\u2010Tian Chow","sequence":"additional","affiliation":[{"name":"Complex\u2010care team KK Women's and Children's Hospital Singapore 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