biostudies-literatureUnknown13He Q<h4>Background</h4>Junctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder, and its urological spectrum remains poorly defined.<h4>Case presentation</h4>A 19-month-old boy carrying compound heterozygous <i>ITGB4</i> 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.<h4>Conclusion</h4>This case broadens the reported urological spectrum of ITGB4-related JEB by illustrating a papillomatous-follicular bladder phenotype. Early urological evaluation in patients with JEB presenting with unexplained urinary symptoms may facilitate timely, targeted management and help prevent chronic complications.Frontiers in pediatrics1555599https://www.ebi.ac.uk/biostudies/studies/S-EPMC12408581biostudies-literatureA novel bladder phenotype in junctional epidermolysis bullosa: a case report.PMC12408581Gui MWang HZhang LHe QfalseA novel bladder phenotype in junctional epidermolysis bullosa: a case report.<h4>Background</h4>Junctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder, and its urological spectrum remains poorly defined.<h4>Case presentation</h4>A 19-month-old boy carrying compound heterozygous <i>ITGB4</i> 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.<h4>Conclusion</h4>This case broadens the reported urological spectrum of ITGB4-related JEB by illustrating a papillomatous-follicular bladder phenotype. Early urological evaluation in patients with JEB presenting with unexplained urinary symptoms may facilitate timely, targeted management and help prevent chronic complications.2025-01-01T00:00:00Z20252026-05-29T03:16:17.897Z2026-05-29T03:05:50.091ZS-EPMC124085814091866010.3389/fped.2025.1555599