Case report: Clitoroplasty in neurofibromatosis presenting as clitoromegaly

Bilommi, Ruankha; Drajat, D.

doi:10.1016/j.epsc.2015.03.007

Cited by 3 publications

(6 citation statements)

References 3 publications

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“…Clitoroplasty with preservation of the neurovascular bundle and glandular tissue is the treatment of choice for clitoral neurofibroma. 4,10 The patient should be kept under followup for recurrence, which is usual if the excision of the primary lesion was incomplete. 6 Endocrinological evaluations help to differentiate clitoromegaly due to NF1 from the virilizing type of congenital adrenal hyperplasia, virilizing ovarian tumors, the effect of exogenous maternal hormones and maternal drug exposure.…”

Section: Discussionmentioning

confidence: 99%

Plexiform Neurofibroma of Clitoris

et al. 2017

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The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.

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Section: Discussionmentioning

confidence: 99%

Plexiform Neurofibroma of Clitoris

et al. 2017

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“…Plexiform neurofibromas, in the setting of neurofibromatosis type I, are the most commonly reported neoplasm of clitoris, thus resulting into female pseudohermaphroditism. [ 9 10 11 12 13 ] Although conventional MR sequences have been traditionally considered as the gold standard for diagnosis of neurofibromatosis, recent advent of MR neurography has imparted improved confidence in diagnosis and in aiding surgical planning through its multiplaner capabilities, precise and complete lesion localization, elegant tissue characterization and absence of partial volume averaging compared to conventional sequences. This nerve selective imaging technique employs diffusion weighting in conjunction with anatomic sequences.…”

Section: Discussionmentioning

confidence: 99%

“…Genital involvement in neurofibromatosis is even more infrequently encountered, although reported more commonly in females with clitoromegaly being the most common. [ 10 11 ] However, Sutphen et al . [ 12 ] in his study over 236 families of neurofibromatosis-1 concluded that clitoris involvement in neurofibromatosis-1 might be more common than reported.…”

Section: Discussionmentioning

confidence: 99%

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

Kumar

Verma

Ojha

et al. 2016

Indian Journal of Radiology and Imaging

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Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia. We further discuss the merits of including MR neurography in the imaging protocol for comprehensive delineation of neurofibromatosis.

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“…It is a genetic disease with a prevalence of one case in 3000 births. The cause of VRD is a genetic mutation [1][2][3][4]. In half of all cases of NF1, the faulty gene is passed from a parent to their child.…”

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confidence: 99%

“…The patient was successfully underwent clitoroplasty by preserving the glans of the clitoris and neurovascular bundles [1], and the excision tissue was sent to pathology. She was followed up after the operation; there was no early or late post-operative complication.…”

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confidence: 99%

A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1

Sirena¹,

Asad²

2021

austinjclincaserep

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Neurofibromatosis type 1, also called Von Recklinghausen Disease is a genetic disorder characterized by the development of multiple benign tumors affecting the skin and nervous system. It is a genetic disease with a prevalence of one case in 3000 births. The cause of VRD is a genetic mutation [1-4]. In half of all cases of NF1, the faulty gene is passed from a parent to their child. Clitoromegaly presenting in childhood can be congenital or acquired. Nonhormonal causes like NF1, epidermoid cysts, tumor syndromes have been reported [5]. Clitoris enlargement is a frequently seen congenital malformation, but acquired clitoral enlargement is rarely detected. While most cases of VRD are the result of a genetic mutation in the neurofibromin gene, there are also acquired cases due to spontaneous mutations [4]. The pathological alterations behind it begin in the embryonic period, prior to differentiation of the neural crest. We report a case of 6.5 year - old - female admitted for clitoromegaly and an apparent deformity of the genital organs. The girl has been diagnosed with clitoromegaly in the context of NF1 Disease. This patient was successfully treated by clitoroplasty. The biopsied clitoral tissue was sent to pathology and revealed plexiform neurofibroma.

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Case report: Clitoroplasty in neurofibromatosis presenting as clitoromegaly

Cited by 3 publications

References 3 publications

Plexiform Neurofibroma of Clitoris

Plexiform Neurofibroma of Clitoris

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

A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1

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