Exit strategy in extensive urological involvement by epidermolysis bullosa: A case report

Abstract

Ganesh Vythilingam, Eleni Papageorgiou, Usman Ali and Abraham Cherian*

Epidermolysis Bullosa (EB) is a rare, inherited skin disorder, characterized by marked mechanical fragility of epithelial tissues and continuous development of non-inflammatory blisters. We present the management of a child with extensive EB of the genitourinary system and a brief review of our experience with the management of urological complications in EB patients. An 11-year-old Ex Prem 29/40, EB-Junctional type with multiple co-morbidities and bilateral end ureterostomies had persistent bilateral hydroureteronephrosis, recurrent UTI, and worsening CKD. The disease extensively involved the urethra, bladder and ureter. The entire ureter on the right, and two thirds of the ureter on the left were substituted using an integrated ileal conduit with augmentation cystoplasty using the “FEZ” technique. A posterior appendix mitrofanoff was also fashioned in the midline. The patient is well 2-years post-surgery. Twenty patients with EB were identified to have urological involvement in our institution between 1986-2022. The severity of the urological involvement in patients with EB was significantly associated with the EB-type (Fisher-test: p=0.035). Interventions and intubations of the urinary tract must be very carefully considered in genitourinary EB. At times a major reconstruction will be required and provides a much better pragmatic solution as seen in our patient.