RECKLINGHAUSEN’S DISEASE WITH UROGENITAL MANIFESTATION
THIAGO F. NUNES, RENATO P. COSTA, FABIO C. NAVARRO
Amaral Carvalho Hospital, Jau, São Paulo, Brazil
Neurofibromatosis or Von Recklinghausen’s disease is a rare disease that affects the urogenital system in its visceral form. We report on one case where the patient had a recurring mass located in the vesicouterine space that caused irritative urinary symptoms, which was confirmed as uterine cervix neurofibroma following surgery and immunohistochemical study. We stress the importance of a wide resection of such tumors and the need for long-term follow-up due to the high recurrence index and the risk of malignant transformation.
words: Von Recklinghausen’s disease; urogenital system;
neoplasm recurrence, local; pelvic neoplasms
Neurofibromatosis or Von Recklinghausen’s disease is a pathology that features dominant autosomal transmission caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2. It demonstrates 100% penetration but a highly variable phenotypic expression (1). The incidence of systemic disease is 1 in every 3000 births; however, urogenital involvement is rare, and only about 50 cases with urinary manifestation have been described, in most cases featuring involvement of the bladder (2). It is known that there is a 12 to 29% (3) risk of malignant degeneration and so follow-up with such patients is important, as is resection of the lesion whenever there is a suspicion of malignant transformation.
21-year old Caucasian woman previously diagnosed with Von Recklinghausen’s
disease type I who had undergone 2 previous operations (exeresis of neurofibroma
in her left forearm and retrovesical neurofibroma with bladder preservation
13 years earlier). She was assymptomatic and had undergone abdominal and
pelvic computerized tomography (CT) every 6 months during the first 2
years and subsequently every 3 years. Since 2001 she had had irritative
urinary symptoms (dysuria, pollakiuria) due to urinary tract infections
(on average every 2 months) confirmed by urine culture. Physical examination
was normal except for the presence of “café au lait”
spots on her entire body.
Neurofibromatosis is a hamartomatous disease of the cell components originating from the neural crest. Neurofibromas are tumors of the autonomic peripheral nerves (Schwann cells) and rarely involve organs in the urogenital system. They most commonly affect the bladder due to the presence of a rich autonomic plexus. The pathogenesis is unknown, however it is known that there is a considerable risk of malignant degeneration (from 12 to 29%) which warrants clinical follow-up and serial imaging exams along with tumor exeresis if the mass increases suddenly, since this could suggest malignant transformation. Local recurrence is common, especially in large skin neurofibromas, thus clinical follow-up with CT is required every 6 months during the first 2 years and then annually.