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Updated: Jan 18, 2026
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Published on: October 12, 2012
A novel bladder phenotype in junctional epidermolysis bullosa: a case report
Qingbao He1,2, Meng Gui1,2, Hao Wang1,2
1Department of Minimally Invasive Urological Surgery, Children's Hospital Affiliated to Shandong University, Jinan, China.
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.
