Dataset Information
A novel bladder phenotype in junctional epidermolysis bullosa: a case report.
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ABSTRACT: 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.
SUBMITTER: He Q
PROVIDER: S-EPMC12408581 | biostudies-literature | 2025
REPOSITORIES: biostudies-literature
Publications
A novel bladder phenotype in junctional epidermolysis bullosa: a case report.
Frontiers in pediatrics 20250821
<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 chroni ...[more]