Von Recklinghausen's disease with urogenital manifestation

Abstract

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.

Spontaneous Vesicovaginal Fistula in Neurofibromatosis: A Case Report

“…The first case of bladder and spinal neurofibromatosis was reported by Gerhardt in 1878 [12]. The bladder is the commonest affected organ in the urinary tract due to the presence of a rich autonomic plexus [11] either as an isolated mass or a diffuse infiltrative process. Symptoms in urinary tract involvement are hematuria, dysuria, urinary retension and mainly irritative complaints [2,[9][10][11].…”

“…The bladder is the commonest affected organ in the urinary tract due to the presence of a rich autonomic plexus [11] either as an isolated mass or a diffuse infiltrative process. Symptoms in urinary tract involvement are hematuria, dysuria, urinary retension and mainly irritative complaints [2,[9][10][11]. Urinary bladder neurofibroma may present with lower urinary tract symptoms, flank pain or enuresis and incontinence [12].…”

“…Genitourinary tract is rarely involved in neurofibromatosis type 1, however the bladder is the commonest organ affected in the urinary tract and a few cases have been reported [3,[9][10][11][12]. Neurofibromas of the genital tract are commonly found in the vulva, clitoris and labia but rarely found in vagina, cervix, endometrium and myometrium [13][14][15].…”

Neurofibroma of the Cervix Presenting as Cervical Stenosis in a Patient with Neurofibromatosis Type 1

“…However, unusual symptoms may be related to the presence of these tumors in diverse organs such as the gastrointestinal tract (4). In its visceral form, NF1 can affect the urogenital system, and irritative urinary symptoms have been described in a patient with a recurrent neurofibroma of the vesicouterine space (6).…”

Reproductive disturbances in multiple neuroendocrine tumor syndromes

“…In addition, there are several case reports describing the presence of reproductive organ (ovarian and uterine) neurofibromas, which, however, do not always appear associated with other manifestations of neurofibromatosis (Horyn et al 1988, Gersell & Fulling 1989, Nortier et al 1989, Gordon et al 1996, Nunes et al 2005, Wei et al 2005. Whether some of these cases represent manifestations of a distinct entity (rather a result of a somatic or mosaic defect) is not known.…”