scholarly journals A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Zeindine Sirena ◽  
◽  
Al Ebrahem Asad ◽  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Genetic Mutation ◽  
Benign Tumors ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

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.

scholarly journals Cervical and Spinal Plexiform Neurofibroma: A Case Report

2021 ◽  
pp. 1-3
Author(s):  
El Azzouzi B ◽  
◽  
Zouita I ◽  
Benfaddoul O ◽  
Basraoui N ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Peripheral Nerves ◽  
Benign Tumor ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Von Recklinghausen Disease ◽  
Rare Benign Tumor ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

Plexiform neurofibroma is a rare benign tumor of the peripheral nerves at the expense of perineural connective cells. It is pathognomonic of neurofibromatosis type 1 (NF1 or Von Recklinghausen disease). MRI is of great help in the diagnosis of this pathology. Anatomopathological confirmation is sometimes necessary, especially in the absence of a context suggestive of NF1. We report the observation of an oung boy with a cervical plexiform neurofibroma revealing a neurofibromatosis Type 1

Oral Manifestations of Neurofibromatosis Type 1 in Children with Facial Plexiform Neurofibroma: Report of Three Cases

2015 ◽  
Vol 39 (2) ◽  
pp. 168-171 ◽  
Author(s):  
KS Cunha ◽  
RE Rozza-de-Menezes ◽  
RM Andrade ◽  
LMS Almeida ◽  
MER Janini ◽  
...  
Keyword(s):  
Trigeminal Nerve ◽  
Neurofibromatosis Type 1 ◽  
Soft Tissues ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Oral Manifestations ◽  
Plexiform Neurofibromas ◽  
Organ Systems

Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Facial plexiform neurofibroma may cause asymmetry, disfigurement and usually arises from the trigeminal nerve. The aim of this paper is to to report three pediatric NF1 cases with facial plexiform neurofibroma presenting with oral manifestations, which were evaluated clinically and radiographically, and also to briefly review the literature. Patients presented with changes in the oral soft tissues, jaws, and teeth ipsilateral to the tumor.

scholarly journals Neurofibromatosis Type 1 With a Pheochromocytoma: A Rare Presentation of Von Recklinghausen Disease

2015 ◽  
Vol 5 (5) ◽  
pp. 309-311 ◽  
Author(s):  
Wahib Zafar ◽  
Benjamin Chaucer ◽  
Fidencio Davalos ◽  
Siddiqui Beenish ◽  
Marie Chevenon ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Rare Presentation ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

scholarly journals The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Cem Yucel ◽  
Salih Budak ◽  
Erdem Kisa ◽  
Orcun Celik ◽  
Zafer Kozacioglu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Neurofibromatosis Type ◽  
Urinary System ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Bladder Leiomyoma ◽  
Von Recklinghausen

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.

scholarly journals Thyroid cancer in a patient with neurofibromatosis type 1: von recklinghausen disease

2016 ◽  
Author(s):  
Ioannis Karaitianos ◽  
Panagiotis Athanassiou ◽  
Christiana Tsomidou ◽  
Ifigenia Kostoglou-Athanassiou
Keyword(s):  
Thyroid Cancer ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

scholarly journals Progesterone and Estrogen Receptors in Neurofibromas of Patients with NF1

2008 ◽  
Vol 1 ◽  
pp. CPath.S1002 ◽  
Author(s):  
Mauro Geller ◽  
Spyros G.E. Mezitis ◽  
Fabio Pereira Nunes ◽  
Marcia G. Ribeiro ◽  
Alexandra Prufer de Q.C. Araújo ◽  
...  
Keyword(s):  
Nervous System ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Progesterone Receptors ◽  
Neurofibromatosis Type ◽  
Benign Tumors ◽  
Positive Staining ◽  
Tissue Samples ◽  
Plexiform Neurofibromas

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system (neurofibromas). The purpose of this study was to test tissue samples taken from neurofibromas and plexiform neurofibromas of NF1 patients for the presence of estrogen and progesterone receptors. We used previously collected samples from patients registered in the database of the Centro Nacional de Neurofibromatose (CNNF-Brazil). Samples from twenty-five patients in the database presenting plexiform neurofibromas (N1 group) and 25 samples from the same database from patients presenting neurofibromas (N2 group) were tested. We observed positive staining for progesterone receptors in 13 of the neurofibroma samples and 19 of the plexiform neurofibroma samples. Among the neurofibroma samples, we observed one sample with positive estrogen receptor staining, but none of the plexiform neurofibroma samples showed positive staining. We suggest further studies to investigate in greater depth possible hormonal influences on the development and growth of neurofibromas and plexiform neurofibromas in NF1.

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