Genitourinary tract involvement in a child with epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is a rare, inherited, bullous disorder of the skin that occasionally involves the urinary tract. We report a 3-month-old, premature infant with EB, who presented with gross hematuria. Urine analysis revealed macrohematuria and proteinuria. The urine culture was negative. On ultrasonic evaluation, there was bilateral hydronephrosis and the distal ureters had echogenic shadows, suggestive of clotted blood. This case is consistent with the rare involvement of the urinary tract with hydronephrosis and bullous lesions.