Genitourinary involvement in epidermolysis bullosa: clinical presentations and therapeutic challenges.
OBJECTIVE
To present our experience of children with epidermolysis bullosa (EB; a rare bullous disorder of the skin) with genitourinary involvement.


METHODS
The medical records of eight children diagnosed with EB (six junctional and two dystrophic type) with genitourinary involvement were reviewed retrospectively. The data collected included age, clinical presentation, ultrasonographic findings, voiding cystourethrography, urodynamic and uroflowmetry studies, and the treatment challenges. The outcomes of the interventions were evaluated every 6 months.


RESULTS
The mean age was 2.3 years (range 1 day to 7 years). The most common clinical presentations were urinary retention and voiding difficulty. Meatomy was performed in two of three boys followed by diminution of urological complaints. In children with vesico-ureteric reflux, subureteric injections of bulking agent and ureteric stenting were satisfactory. Detrusor instability and bladder compliance improved after α-blocker therapy. The mean (range) follow-up was 62.6 (11-120) months except for two who died in early infancy.


CONCLUSIONS
Considering the potential urological involvement in every child with EB it is essential to provide patients with early appropriate treatment. Management of urological problems should preferably be in a way to entail minimal interventions and if required be performed using small sized instruments. Medical therapy seems promising for voiding dysfunction in this subset of patients.
Kajbafzadeh
Abdol-Mohammad
AM
Paediatric Urology Research Center, Department of Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran. kajbafzd@sina.tums.ac.ir
Elmi
Azadeh
A
Mazaheri
Parisa
P
Talab
Saman Shafaat
SS
Jan
Delaram
D
D000317:Adrenergic alpha-Antagonists / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D016896:Treatment Outcome; D014463:Ultrasonography; D001745:Urinary Bladder Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D014555:Urination Disorders / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D013520:Urologic Surgical Procedures / Q000379:methods*
D000317:Adrenergic alpha-Antagonists