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.
D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009455:Neurofibroma / Q000000981:diagnostic imaging* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging*; D010502:Perineum / Q000473:pathology; D011859:Radiography; D012611:Scrotum / Q000473:pathology; D014523:Urethral Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D014565:Urogenital Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology