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Case report illustrates a unique bladder phenotype in a child with ITGB4 mutations, suggesting targeted urological evaluation may prevent complications.
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.
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He et al. (2025) studied this question.
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