Von Recklinghausen's disease presenting as scrotal tumor.

A five-year-old boy had an asymptomatic, periurethral, scrotal-perineal mass. An unusual associated urethral defect was subsequently discovered. The locally aggressive lesion was excised and urethroplasty accomplished. The histopathologic diagnosis proved to be plexiform neurofibroma. This is a forme fruste example of ectodermal dysplasia known as neurofibromatosis. I believe this is the first report of similar scrotal, perineal, or periurethral involvement in the syndrome.