Plexiform Neurofibroma Presenting as Ambiguous Genitalia (original) (raw)
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Indian Journal of Radiology and Imaging, 2016
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.
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.
Large penile plexiform neurofibroma in an 11-year old boy
Malawi Medical Journal, 2018
Background Neurofibromatosis is a genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve (neural) cell tissues, causing tumors (neurofibromas) to develop on nerves. It is the most common single gene disorder of the nervous system and inheritance is through autosomal dominance. They are usually classified into types 1 and 2, the type 1 is the commoner type and also known as superficial neurofibroma. Plexiform neurofibromas are the next most common type of tumor in individuals with type 1 neurofibroma. Plexiform neurofibromas are histologically benign tumors that are made up of a variety of cell types including neuronal axons, Schwann cells, fibroblasts, mast cells, macrophages, perineural cells and extracellular matrix materials such as collagen. They can occur in any part of the body and can grow throughout the person's lifetime, often becoming disfiguring, disabling or deadly via compression of vital structures or conversion to a malignant sarcoma or malignant peripheral nerve sheath turmor. The aim of this report is to present a large penile plexiform neurofibroma which required extensive dissection for complete excision and reconstruction of the phallus and glans penis. Objectives To present a huge penile plexiform neurofibroma and the mode of surgical treatment. Methods The huge penile plexiform neurofibroma was completely excised and the penile defect resulting from the excision was repaired. Conclusion Plexiform neurofibromas are congenital tumors of peripheral nerve sheaths which may also develop near nerve roots deep within the body. They are usually benign but carry a malignant potential in 5-10% of patients. Plexiform neurofibromas are commoner in the face, chest and limbs but the index case occurred on the penile shaft.
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.
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.
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.