Co-Manifestations of Genital Neurofibromatosis in a Patient with Neurofibromatosis Type 1

Abstract

Genitourinary presentation of neurofibromatosis type 1 (NF-1) is rare, amongst which bladder involvement is the most common. Sporadic case reports do highlight infrequent external genitalia involvement in NF-1. We present a 21-year-old male with prior childhood history of partial cystectomy for an NF-1 related bladder tumor, who more recently presented with gross hematuria. Workup revealed multiple ganglioneuromas involving the bladder, prostate, and penis, and the patient underwent radical cystoprostatectomy and penile mass excision. Recurrences of previously excised urologic tumors or new tumors may appear many years later, and long-term monitoring of NF-1 patients with urologic involvement is necessary.