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.

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 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.

Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1

2017 ◽  
Vol 52 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Daniele Bissacco ◽  
Maurizio Domanin ◽  
Silvia Romagnoli ◽  
Edoardo Martelli ◽  
Vittorio Civelli ◽  
...  
Keyword(s):  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Spontaneous Rupture ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Occipital Artery ◽  
Endovascular Approach ◽  
Spontaneous Hematoma

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder, mainly characterized by skin and peripheral nervous system abnormalities. Uncommonly, NF-1 may be associated with peripheral or supra-aortic trunks artery aneurysms. We report a case of symptomatic multiple occipital artery aneurysms detected in a 53-year-old woman affected by sporadic NF-1. An endovascular approach was performed to exclude aneurysms and to stop laterocervical spontaneous hematoma.

scholarly journals Multidisciplinary Management of a Giant Plexiform Neurofibroma by Double Sequential Preoperative Embolization and Surgical Resection

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Roberto Vélez ◽  
Sergi Barrera-Ochoa ◽  
David Barastegui ◽  
Mercedes Pérez-Lafuente ◽  
Cleofe Romagosa ◽  
...  
Keyword(s):  
Surgical Resection ◽  
Management Strategies ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Postoperative Management ◽  
Benign Tumors ◽  
Preoperative Embolization ◽  
Multidisciplinary Management ◽  
Giant Neurofibroma

Plexiform neurofibromas are benign tumors originating from subcutaneous or visceral peripheral nerves, which are usually associated with neurofibromatosis type 1. Giant neurofibromas are very difficult to manage surgically as they are extensively infiltrative and highly vascularized. These types of lesions require complex preoperative and postoperative management strategies. This case report describes a 22-year-old female with a giant plexiform neurofibroma of the lower back and buttock who underwent pre-operative embolization and intraoperative use of a linear cutting stapler system to assist with haemostasis during the surgical resection. Minimal blood transfusion was required and the patient made a good recovery. This case describes how a multidisciplinary management of these large and challenging lesions is technically feasible and appears to be beneficial in reducing perioperative blood loss and morbidity. Giant neurofibroma is a poorly defined term used to describe a neurofibroma that has grown to a significant but undefined size. Through a literature review, we propose that the term “giant neurofibroma” be used for referring to those neurofibromas weighing 20% or more of the patient's total corporal weight.

scholarly journals Paediatric Extensive Cervical Plexiform Neurofibroma Mimicking a Parotid Lesion

2020 ◽  
Vol 26 (2) ◽  
pp. 60-67
Author(s):  
Iu Tong Lim ◽  
Avatar Singh Mohan Singh ◽  
Viji Ramasamy ◽  
Suhana Abdul Rahim ◽  
Piao Piao Ang ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Left Neck ◽  
History Of ◽  
One Year ◽  
Important Variant ◽  
Carotid Space

Neurofibromatosis Type 1 (NF1), also known as von Recklinghausen’s disease is a multisystem genetic disorder that occurs with an incidence of 1 in 4000 live births. Plexiform nmeurofibroma (PN) is a rare important variant of NF1, seen in 5 to 15% of cases. We report a 7-year-old boy, without family history of neurofibromatosis presented with left neck swelling associated with multiple café au lait spots for one-year duration. Computed tomography of head and neck revealed an extensive soft tissue lesion involving the left parapharyngeal, carotid space and parotid space encasing the left internal and common carotid artery until its origin at the arch of aorta with erosion of the basiocciput. He underwent transcervical excision of the lesion, which was confirmed histopathologically as PN.

scholarly journals Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

2021 ◽  
Vol 14 (3) ◽  
pp. e238694
Author(s):  
Tine Lorentzen ◽  
Hanne Madsen ◽  
Marie Josée Zareh Lausten-Thomsen ◽  
Anette Bygum
Keyword(s):  
Nervous System ◽  
Clinical Manifestation ◽  
Neurofibromatosis Type 1 ◽  
Spontaneous Pneumothorax ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Involvement ◽  
Secondary Spontaneous Pneumothorax ◽  
Increased Risk

Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.

scholarly journals Mast cells and the neurofibroma microenvironment

Blood ◽  
2010 ◽  
Vol 116 (2) ◽  
pp. 157-164 ◽  
Author(s):  
Karl Staser ◽  
Feng-Chun Yang ◽  
D. Wade Clapp
Keyword(s):  
Mast Cells ◽  
Stem Cell Factor ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Murine Models ◽  
Hematopoietic System ◽  
Common Genetic Disorder

Abstract Neurofibromatosis type 1 (NF1) is the most common genetic disorder with a predisposition to malignancy and affects 1 in 3500 persons worldwide. NF1 is caused by a mutation in the NF1 tumor suppressor gene that encodes the protein neurofibromin. Patients with NF1 have cutaneous, diffuse, and plexiform neurofibromas, tumors comprised primarily of Schwann cells, blood vessels, fibroblasts, and mast cells. Studies from human and murine models that closely recapitulate human plexiform neurofibroma formation indicate that tumorigenesis necessitates NF1 loss of heterozygosity in the Schwann cell. In addition, our most recent studies with bone marrow transplantation and pharmacologic experiments implicate haploinsufficiency of Nf1 (Nf1+/−) and c-kit signaling in the hematopoietic system as required and sufficient for tumor progression. Here, we review recent studies implicating the hematopoietic system in plexiform neurofibroma genesis, delineate the physiology of stem cell factor–dependent hematopoietic cells and their contribution to the neurofibroma microenvironment, and highlight the application of this research toward the first successful, targeted medical treatment of a patient with a nonresectable and debilitating neurofibroma. Finally, we emphasize the importance of the tumor microenvironment hypothesis, asserting that tumorigenic cells in the neurofibroma do not arise and grow in isolation.

scholarly journals Unusual cause of laryngeal dyspnea and swallowing troubles in a 2-year old child

2020 ◽  
Vol 90 (3) ◽  
Author(s):  
Monia Attia ◽  
Ime Bouktif ◽  
Meriem Affes ◽  
Sarra Zairi ◽  
Ikbel Khalfallah ◽  
...  
Keyword(s):  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Benign Tumors ◽  
Mri Imaging ◽  
Cervical Mass ◽  
Plexiform Neurofibromas ◽  
Enhanced Ct ◽  
Neural Origin ◽  
Laryngeal Dyspnea ◽  
Base Of The Skull

Plexiform neurofibromas are rare benign tumors developed from peripheral nervous system often associated with neurofibromatosis type 1. We report the case of multifocal plexiform neurofibromas in a 2-year-old child with cervical mass obstructing the trachea causing respiratory distress. A cervical ultrasound examination was performed followed by enhanced CT and MRI. Imaging revealed an expansive cervical mass extended from the base of the skull to the mediastinum associated with similar pelvic and sacral foraminal masses. The target like MRI aspect on T2-weighted images was suggestive of the neural origin. Biopsy under ultrasound control confirmed the diagnosis of plexiform neurofibroma.

Giant plexiform neurofibroma in neurofibromatosis type 1

2018 ◽  
Vol 153 (5) ◽  
Author(s):  
Emanuele Miraglia ◽  
Teresa Lopez ◽  
Stefano Calvieri ◽  
Sandra Giustini
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type
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