{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T18:45:38Z","timestamp":1755801938590,"version":"3.44.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T00:00:00Z","timestamp":1755734400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Junctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder, and its urological spectrum remains poorly defined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>A 19-month-old boy carrying compound heterozygous <jats:italic>ITGB4<\/jats:italic> mutations (p.R252C, p.P305l) had a 17-month history of intermittent voiding. Ultrasound demonstrated focal papillomatous bladder-wall thickening, and cystoscopy showed scattered follicular mucosal changes without masses. Biopsies revealed mild oedema and chronic lymphocytic inflammation; no malignancy. Urine cultures were negative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case broadens the reported urological spectrum of ITGB4-related JEB by illustrating a papillomatous\u2013follicular bladder phenotype. Early urological evaluation in patients with JEB presenting with unexplained urinary symptoms may facilitate timely, targeted management and help prevent chronic complications.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1555599","type":"journal-article","created":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T05:28:38Z","timestamp":1755754118000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel bladder phenotype in junctional epidermolysis bullosa: a case 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