{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["He Q"],"pubmed_abstract":["<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."],"journal":["Frontiers in pediatrics"],"pagination":["1555599"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12408581"],"repository":["biostudies-literature"],"pubmed_title":["A novel bladder phenotype in junctional epidermolysis bullosa: a case report."],"pmcid":["PMC12408581"],"pubmed_authors":["Gui M","Wang H","Zhang L","He Q"],"additional_accession":[]},"is_claimable":false,"name":"A novel bladder phenotype in junctional epidermolysis bullosa: a case report.","description":"<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.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-05-29T03:16:17.897Z","creation":"2026-05-29T03:05:50.091Z"},"accession":"S-EPMC12408581","cross_references":{"pubmed":["40918660"],"doi":["10.3389/fped.2025.1555599"]}}