Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia (original) (raw)

Clitoromegaly in neurofibromatosis

American Journal of Medical Genetics, 1995

Genitourinary neurofibromas are rare and clitoral involvement in neurofibromatosis (NF) has been reported infrequently. However, when it occurs, clitoromegaly is often the presenting sign. In many cases, it is congenital. In 236 families with type 1 neurofibromatosis (NF-1) evaluated through the USF Regional Genetics Program between January 1982 and September 1993, four patients had clitoral involvement. In three, involvement was limited to the clitoris. Biopsy/surgical excision in two of them showed a neurofibroma in one and non-specific hamartomatous soft tissue overgrowth in the other. In the fourth patient, the involvement was asymmetric and extended to the labia majora and mons pubis. Endocrine studies and chromosomes in all patients were normal; there was no exposure to androgens, progestins, or coumadin. There was no gestational history of maternal luteomas. Review of the literature documented 26 patients with NF and clitoral involvement.Clitoral involvement in NF-1 appears to be more common than previously reported and the differential diagnosis of ambiguous genitalia should include clitoromegaly due to NF. Pathogenesis of clitoral lesions appears similar to other lesions of NF. Biopsy of such lesions appears to be justified only when malignancy is suspected. © 1995 Wiley-Liss, Inc.

Extensive Plexiform Neurofibroma Presenting as Clitoromegaly in Neurofibromatosis Type 1

Journal of Dr. Behcet Uz Children s Hospital, 2021

Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder with multisystem involvement. Genitourinary involvement of neurofibromatosis type 1 is rare condition and involvement of plexiform neurofibroma can cause painful clitoromegaly. A 9-year-old girl with neurofibromatosis type-1 referred with clitoromegaly to our endocrinology clinic. Pelvic magnetic resonance imaging (T2W images) showed that plexiform neurofibroma was found on the pelvic floor and peripubic region, which was 8x7x13 cm in size, extending to the external genital region and progressing to subcutaneous soft tissue. Cranial and lumbosacral magnetic resonance imaging revealed two neurofibromas in the cerebellar region and the basal ganglia. We emphasize it should be kept in mind that suspicious genitalia may develop due to infiltration of space occupying formations such as neurofibromas.

Vulvar Plexiform Neurofibromatosis, Case Report and Review of Literatures

Madridge J Womens Health Emancipation, 2017

Neurofibromatosis is a rare disease that can affects the female urogenital system with tumor formation. Clitoral involvement is rare and selective labium majus neurofibroma without clitoral involvement is extremely rare. Only 31 cases of genitourinary neurofibromas have been described in the literature. We report on a vulval plexiform neurofibroma of diffuse type in a child as a primary presentation of neurofibromatosis without systemic manifestations of the disease nor clitoral involvement which is extremely rare. Immunohistochemical study of the excised lesion is important to confirm the diagnosis. Neurofibroma should be considered as one of the differential diagnosis of the vulval swelling which would help in the primary surgery where extended excision of the tumor is essential. Long-term follow-up is needed where there is increased risk of recurrence and malignant transformation.

Neurofibromatosis presenting as painless clitoromegaly

Urology journal, 2009

Received June 2008 Accepted September 2008 INTRODUCTION Neurofibromatosis is an autosomal dominant progressive disorder with an incidence of approximately 1 in 3000 live births.(1) Its recognized features include hyperpigmented skin lesions (cafe-au-lait spots), neurofibromas, iris hamartomas, macrocephaly, central nervous system tumors, defects of the skull and facial bones, and vascular lesions. Involvement of the external genitalia is extremely unusual.(1,2) We present a case of a neurofibroma of the dorsal clitoral hood and its management.

PlexiformNeurofibromatosis of Vulva; A case report

Plexiform Neurofibromatosis of vulva is a rare, benign tumor of genital tract arising from nerve sheath of peripheral nerve. It may present as solitary lesion or as part of Von Recklinghausen’s disease. Genitourinary neurofibroma is rare, however clitoris and labia majus happen to be the most frequent location of neurofibromatosis involving female genital tract. We present a case of plexiform neurofibroma arising from left labia majora in a young patient having features of Von Recklinghausen's disease. She complained of discomfort while walking due to rubbing of pedunculated mass arising from her labia majora. We carried out the surgical excision of the mass followed by primary repair of labia majora. She has been followed up on out-patient basis for about three months without any recurrence so far.

Vulvar malignancy in neurofibromatosis syndrome

2013

Type 1 neurofibromatosis (NF1) is a dominantly inherited neurologic disorder that affects primarily the skin, bones, and peripheral nervous system. It may be associated with a variety of clinical manifestations including cafe-au-lait spots, skinfold freckling, Lisch nodules, and visceral neurofibromas. Individuals affected by NF1 harbor an increased risk for both benign and malignant tumors. Malignant transformation is usually observed in the form of neurosarcoma. Rarely, NF1 affects the genital tract, and isolated vulvar localization is extremely rare. Here is reported a rare case of a solitary neurosarcoma of the vulva in a 43-year-old woman affected by NF1 syndrome treated with surgical excision. The purpose of this case is to underline the possibility of association between NF1 and genital tract sarcoma and to suggest an accurate evaluation of rapid growth vulvar mass in this setting.