Urological pathologies in children with epidermolysis bullosa - a single center experience
Petra Gombos, MD, PhD, Mircia Aurel Ardelean, MD, Roman Metzger, MD, Martha Georgina Brandtner, MD.
Departments of Pediatric and Adolescent Surgery, Paracelsus Medical University, Sa, Salzburg, Austria.
BACKGROUND: Epidermolysis bullosa (EB) is a group of heterogeneous diseases resulting in extreme fragility of the skin and mucous membranes leading to blistering following minor traction or trauma. There is an increasing awareness, that patients with EB may develop significant urological complications and up to date, there is no standardized systematical evaluation for pediatric patients. Furthermore, end stage renal disease may be the second most common cause of death in patients with EB.
METHODS: We retrospectively reviewed the charts of 64 boys with EB presenting between 2006 and 2019 at the Department of Dermatology as well as the Department of Pediatrics or Pediatric Surgery for any additional urological pathologies.
RESULTS: Pathologic phimosis caused by intense scarring of the foreskin could be identified in 13% (n=8) of the children with either EB simplex associated with muscular dystrophy (EBS-MD) or severe generalized recessive dystrophic EB (RDEB-gen sev). Seven of the 8 children with phimosis underwent radical circumcision. Of the 7 circumcised patients there were no documented complications, however three patients showed clear intraoperative epidermal detachment, despite very gentle tissue handling. Overall, according to our data only 7 patients underwent abdominal sonography for other reasons, leading to the discovery of one patient with hydronephrosis. One of the 64 patients with junctional EB and pyloric atresia (JEB-PA) developed microscopic and macroscopic hematuria, proteinuria, post mictional pain and hydronephrosis grade II. Another patient with generalized intermediate recessive dystrophic EB (RDEB-gen intermed) developed unilateral ureteral stricture with urothelial involvement.
CONCLUSIONS: The incidence of pathologic phimosis in children with EB in this single center population is comparable to the population of healthy boys. Our data suggest that performing circumcision in EB patients can be challenging. Furthermore, a systematic evaluation of all EB patients should be implemented in order to diagnose urological complications as soon as possible. Further studies are necessary to understand long-term risk factors for urological complications and their prevention in patients with EB.
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