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 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.

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.

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

scholarly journals Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Correct Diagnosis ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Detection Techniques ◽  
Life Threatening ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Work ◽  
Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

scholarly journals An Exceptional Case of Intraparotid Plexiform Neurofibroma Originating from Autonomic Fibers of the Auriculotemporal Nerve

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Sarantis Blioskas ◽  
Sotiris Sotiriou ◽  
Katerina Rizou ◽  
Triantafyllia Koletsa ◽  
Petros Karkos ◽  
...  
Keyword(s):  
Parotid Gland ◽  
Plexiform Neurofibroma ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Exceptional Case ◽  
Benign Tumors ◽  
First Case ◽  
Superficial Lobe ◽  
The Right ◽  
Auriculotemporal Nerve

Plexiform neurofibromas are benign tumors that tend to occur in patients suffering from neurofibromatosis type 1 (NF-1). This report addresses a rare case where the tumor affected the parotid gland, deriving almost exclusively from the peripheral portion of the facial nerve. A 6-year-old male was referred to us complaining about a gradually enlarging swelling over the right parotid area. Imaging localized the lesion to the superficial lobe of the parotid gland, suggesting a neurofibroma. Cosmetic disfigurement and a functional deficit led us to perform complete surgical resection. Meticulous surgical dissection as well as auriculotemporal nerve origin made complete extirpation possible with almost zero morbidity and ensured alleviation of both aesthetic impairment and pain. This is the first case of an intraparotid PN in a pediatric NF-1 patient, which originated from branches of the auriculotemporal nerve and particularly from fibers of the autonomic nervous system. Radical surgical excision was decided according to established decision-making algorithms.

Clinical and Sonographic Classification of Neurofibromas in Children with Neurofibromatosis Type 1 – A Cluster Analysis

2021 ◽  
Author(s):  
Francisco Javier García-Martínez ◽  
Fernando Alfageme ◽  
Anna Duat-Rodríguez ◽  
Eva María Andrés Esteban ◽  
Angela Hernández-Martín
Keyword(s):  
Cluster Analysis ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
High Frequency Ultrasound ◽  
Accurate Identification ◽  
External Evaluators ◽  
Sonographic Patterns ◽  
Sonographic Classification

Abstract Purpose High-frequency ultrasound allows the accurate identification of neurofibromas in neurofibromatosis type 1 (NF1). This study aimed to analyze the ultrasound features of neurofibromas in children with NF1, to establish a classification based on the clinical and sonographic patterns of the different types of neurofibromas, and to evaluate the interobserver correlation coefficient (κ) of this classification. Materials and Methods In this prospective, single referral center observational study, clinical and ultrasound findings of neurofibromas in children diagnosed with NF 1 were analyzed. To identify the ultrasound patterns, a cluster analysis allowing the inclusion of both clinical and ultrasound data was designed. The κ coefficient was calculated using 9 external evaluators. Results 265 ultrasound scans were performed on a total of 242 neurofibromas from 108 children diagnosed with NF1. Cluster analysis allowed the identification of 9 patterns (Snedecorʼs F, P < 0.001) classified as “classic” cutaneous neurofibroma, blue-red neurofibroma, pseudoatrophic neurofibroma, nodular subcutaneous neurofibroma, diffuse subcutaneous neurofibroma, congenital cutaneous neurofibroma, congenital plexiform neurofibroma, congenital diffuse and plexiform neurofibroma, and subfascial neurofibroma. The κ coefficient of the interobserver ratings was 0.82. Conclusion Patterns identified in the cluster analysis allow neurofibromas to be classified with a very high interobserver correlation.

scholarly journals Diffuse neurofibroma - an uncommon cause of alopecia

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 166-169 ◽  
Author(s):  
Vasco Coelho Macias ◽  
Margarida Rafael ◽  
Cândida Fernandes ◽  
Joaninha Costa Rosa
Keyword(s):  
Young Adults ◽  
Subcutaneous Tissue ◽  
Neurofibromatosis Type ◽  
Benign Tumors ◽  
Nerve Sheath ◽  
Spindle Cells ◽  
Children And Young Adults ◽  
Low Incidence ◽  
Infiltrative Tumor

Although infrequent, alopecia can be caused by benign cutaneous tumours. Neurofibromas are common benign tumors that originate in the peripheral nerve sheath. Diffuse neurofibroma is a rare variant of neurofibroma that is thought to occur mainly in the head and neck of children and young adults. Histology generally shows an infiltrative tumor, composed of spindle cells in the dermis and subcutaneous tissue. Despite being rare, malignant transformation has been reported. The association between diffuse neurofibromas and neurofibromatosis type 1 still remains to be determined since some authors question the low incidence usually described. We report the case of a 42-year-old man who had a diffuse neurofibroma on the scalp presenting as alopecic plaques.

scholarly journals Adrenal incidentaloma in neurofibromatosis type 1

2008 ◽  
Vol 136 (5-6) ◽  
pp. 295-298
Author(s):  
Milina Tancic-Gajic ◽  
Svetlana Vujovic ◽  
Svetislav Tatic ◽  
Milos Stojanovic ◽  
Miomira Ivovic ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Fatal Outcome ◽  
Clinical Manifestations ◽  
Adrenal Incidentaloma ◽  
Neurofibromatosis Type ◽  
Clinical Criteria ◽  
Abdominal Magnetic Resonance Imaging ◽  
Rare Tumours

INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria. The presence of numerous localised cutaneous neurofibromas or a plexiform neurofibroma is virtually pathognomonic of neurofibromatosis type 1. The incidence of pheochromocytoma in neurofibromatosis type 1 is 0.1-5.7%. CASE OUTLINE A 56-year old female patient was admitted for further evaluation of incidental adrenal tumour previously diagnosed on computerized tomography (CT). She had previously unrecognized neurofibromatosis type 1 and a clinical picture which could remind of pheochromocytoma. None of the catecholamine samples in 24 hr urine indicated functionally active pheochromocytoma. Chromogranin A was moderately increased. Decision for operation was made after performing the image techniques. Adrenal incidentaloma had features of pheochromocytoma on abdominal magnetic resonance imaging (MRI), with positive 131I-MIBG (iodine 131-labelled metaiodobenzylguanidine scintigraphy). After being treated with phenoxybenzamine and propranolol, she was operated on. The pathohistological finding showed the case of left adrenal pheochromocytoma. CONCLUSION Detailed diagnostic procedure for pheochromocytoma should be performed with patients having neurofibromatosis type 1 and adrenal incidentaloma. Pheochromocytomas are rare tumours with fatal outcome if not duly recognized and cured.

scholarly journals Surgery Combined With Embolization in the Treatment of Plexiform Neurofibroma: A Case Report and Literature Review

2021 ◽  
Vol 6 (4) ◽  
pp. 01-04
Author(s):  
Reinaldo Filho
Keyword(s):  
Plexiform Neurofibroma ◽  
Arterial Embolization ◽  
Neurofibromatosis Type ◽  
Self Esteem ◽  
Life Threatening ◽  
Feeding Vessels ◽  
The Right ◽  
Polyvinyl Alcohol Particles

Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem genodermatosis resulting from a mutation on chromosome 17q11.2, characterized by diverse clinical expression with involvement of the skin, nervous system, bones, eyes and other systems. Neurofibromas are tumors located along nerve bundles; when they become large, they are called plexiform neurofibromas. Complications of neurofibromas are rare, but include malignant transformation and potentially life-threatening hemorrhages. A comprehensive perioperative management, including arterial embolization of feeding vessels, is required in order to perform a safe surgical procedure and to reduce potential surgical complications. We report a case of a large plexiform neurofibroma on the right flank, treated in a two-stage approach: first, embolization with polyvinyl alcohol particles of the inferior epigastric, lumbar and superior gluteal arteries on the right and, second, 24 hours after embolization, exeresis of the lesion, which weighed 2.5 kg. Two years after surgery, the patient was asymptomatic, without tumor recurrence and with an important improvement in self-esteem and quality of life.

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