ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Surgery
Volume 13 - 2025 | doi: 10.3389/fped.2025.1555599
This article is part of the Research TopicThe pathogenesis and novel treatment options in AIBDsView all 7 articles
A Novel Bladder Phenotype in Junctional Epidermolysis Bullosa: A
Provisionally accepted
- Children's Hospital Affiliated to Shandong University, Ji nan, China
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Background: Junctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder ,and its urological spectrum remains poorly defined.Case Presentation: A 19-month-old boy carrying compound heterozygous ITGB4 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.Conclusion: 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.
Keywords: Junctional Epidermolysis Bullosa, ITGB4 mutation, Bladder involvement, Papillomatous bladder thickening, Follicular mucosal changes, Rare disease Junctional epidermolysis bullosa, ITGB4 mutation, Bladder involvement, Papillomatous bladder thickening, Follicular mucosal phenotype, rare disease
Received: 05 Jan 2025; Accepted: 02 Jul 2025.
Copyright: © 2025 He, Gui, Wang and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lei Zhang, Children's Hospital Affiliated to Shandong University, Ji nan, China
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