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1.
Arq. bras. neurocir ; 40(1): 107-112, 29/06/2021.
Article in English | LILACS | ID: biblio-1362261

ABSTRACT

Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1. This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT. In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.


Subject(s)
Humans , Male , Young Adult , Neurofibromatosis 1/surgery , Neurofibromatosis 1/complications , Venous Thrombosis/etiology , Venous Thrombosis/drug therapy , Neurofibromatosis 1/diagnostic imaging , Enoxaparin/therapeutic use , Ultrasonography, Doppler/methods , Venous Thrombosis/diagnostic imaging , Rivaroxaban/therapeutic use , Neurofibroma/surgery
2.
Rev. bras. cir. plást ; 34(4): 552-556, oct.-dec. 2019. ilus
Article in English, Portuguese | LILACS | ID: biblio-1047925

ABSTRACT

A neurofibromatose tipo 1 é uma doença autossômica dominante rara, com manifestações clínicas diversas. Sua apresentação mais marcante é a presença de neurofibromas (tumores da bainha neural) cutâneos ou internos, que também podem ocorrer de forma esporádica, associados a outras manifestações sistêmicas, como manchas café com leite e lesões oculares. Por serem tumores da bainha de mielina, os neurofibromas podem acometer diversos nervos periféricos, incluindo nervos da face. Apresentamos o caso de um paciente de 1 ano, portador de neurofibromatose tipo 1, com neurofibroma em nervo infraorbital direito, com o acesso proposto para tratamento cirúrgico que fornecesse ampla visualização e acesso a lesão, sem comprometimento estético importante, permitindo preservação de partes moles e adequado crescimento facial.


Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with multiple clinical manifestations. Its most significant presentation is cutaneous or subcutaneous neurofibromas (myelin sheath tumors), which may be associated with other systemic manifestations such as caféau- lait spots and eye involvement. Neurofibromas can affect several peripheral nerves, including the facial nerves. This report presents a case of a 1-year-old patient with NF1 with right infraorbital nerve neurofibroma in which the proposed access for surgical treatment allowed adequate visualization of the tumor with good aesthetic results, preservation of the soft tissues, and normal facial growth.


Subject(s)
Humans , Male , Infant , History, 21st Century , Orbit , Surgical Procedures, Operative , Orbital Pseudotumor , Neurofibromatoses , Nerve Sheath Neoplasms , Face , Neurofibroma , Orbit/abnormalities , Orbit/surgery , Surgical Procedures, Operative/methods , Orbital Pseudotumor/surgery , Orbital Pseudotumor/immunology , Orbital Pseudotumor/therapy , Neurofibromatoses/surgery , Neurofibromatoses/diagnosis , Nerve Sheath Neoplasms/surgery , Nerve Sheath Neoplasms/therapy , Face/surgery , Neurofibroma/surgery , Neurofibroma/therapy
3.
An. Facultad Med. (Univ. Repúb. Urug., En línea) ; 5(1): 64-69, jun. 2018. ilus, tab
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1088673

ABSTRACT

La neurofibromatosis es el síndrome neurocutáneo más frecuente, una enfermedad hereditaria con afectación multisistémica. Se distinguen tres formas clínicas de la enfermedad; la neurofibromatosis tipo 1 (NF-1) es la más frecuente. A las lesiones cutáneas, presentes en la mayoría de los casos, se pueden asociar tumores en cualquier localización. Los neurofibromas son característicos de la NF-1. El objetivo de esta comunicación es describir una complicación poco frecuente de la NF-1 que representa un desafío terapéutico debido a la topografía y frecuencia de recidivas. Se trata de una niña de 3 años con NF-1 con síntomas de mielopatía multisegmentaria de instalación progresiva de dos meses de evolución. La imagenología evidenció una tumoración cérvico-dorsal con compresión medular. La exéresis tumoral permitió confirmar neurofibroma intradural, extramedular. Los neurofibromas plexiformes se caracterizan por su comportamiento infiltrativo y diseminación paraespinal extensa. La resección de estas lesiones genera habitualmente morbilidad asociada al compromiso de estructuras críticas extraespinales y dificulta su resección completa tal como ocurrió en el caso clínico presentado. Se destaca la importancia de realizar un correcto seguimiento clínico y eventualmente imagenológico de los pacientes con NF-1 para detectar y abordar oportunamente los tumores, su complicación más importante.


Neurofibromatosis is one of the most frequent neurocutaneous syndrome. It is an inherited diseasewhich affects multiple systems. Three clinical presentations of the disease can be distinguished being type 1 neurofibromatosis the most common. Tumors at any body location can be associated to the usually presented cutaneous lesions. Neurofibromas are characteristic of type 1 neurofibromatosis. The aim of this study is to describe a less frequent complication of the disease which represents a therapeutic challenge due to its topography and frequency of recurrences. This is the case of a 3 year-old girl with type 1 neurofibromatosis with symptoms of multisegmental myelopathy. A cervical-dorsal tumor with medullary compression was shown in medical imaging. Tumor extraction allowed to confirm intradural, extramedullary neurofibroma. Plexiform neurofibromas are characterized by their infiltrative behavior and extensive paraspinal dissemination. Resection of these lesions usually generates morbidity associated with the involvement of extra-spinal critical structures and hinders their complete resection as occurred in the presented clinical case. It is important to perform a correct clinical and eventually imaging follow-up of patients with NF-1 to detect and treat tumors, its most important complication.


Neurofibromatose é a syndrome neurocutânea mais freqüente, uma doença hereditária com envolvimento multissistêmico. Três formas clínicas da doença são distinguidas. A neurofibromatose tipo 1 (NF-1) é a mais freqüente. As lesões cutâneas, presentes na maioria dos casos, podem ser associadas a tumores em qualquer localização. Neurofibromas são característicos de NF-1. O objetivo desta comunicação é descrever uma complicação rara de NF-1 que representa um desafio terapêutico devido à topografia e freqüência de recidivas. Trata-se de uma menina de 3 anos com NF-1 com sintomas de mielopatia multisegmentar de instalação progressiva de dois meses de evolução. A imagem mostrou um tumor cérvico-dorsal com compressão da medula espinhal. A excisão do tumor permitiu confirmar neurofibroma intradural, extramedular. Os neurofibromes plexiformes são caracterizados pelo seu comportamento infiltrativo e sua disseminação paraspinal extensa. A ressecção dessas lesões geralmente gera morbidade associada ao envolvimento de estruturas críticas extra-espinhais e dificulta sua ressecção completa, como ocorreu no caso clínico apresentado. Destaca-se a importância de realizar um acompanhamento clínico e, eventualmente, de imagens de pacientes com NF-1 para detectar e tratar oportunamente os tumores, sua complicação mais importante.


Subject(s)
Humans , Female , Child, Preschool , Spinal Cord Neoplasms , Thoracic Vertebrae/pathology , Cervical Vertebrae/pathology , Neurofibromatosis 1/complications , Neurofibroma/surgery , Neurofibroma/diagnosis , Thoracic Vertebrae/surgery , Cervical Vertebrae/surgery , Neoplasm Recurrence, Local
5.
Rev. cuba. cir ; 56(3): 1-7, jul.-set. 2017. ilus
Article in Spanish | LILACS | ID: biblio-900985

ABSTRACT

Se presenta paciente con historia familiar de neurofibromatosis (NF) tipo I, con síntomas y signos sugestivos de esta enfermedad que refiere dolor torácico paravertebral izquierdo al cual mediante estudios de imagen se le diagnostica lesión tumoral en mediastino posterior. Es de notar la presencia de manchas cutáneas características de la neurofibromatosis, localizadas solo en un dermatoma del cuerpo sin neurofibromas en ninguna otra localización. Se intervino quirúrgicamente el enfermo, se resecó una gran masa mediastinal que se confirmó histológicamente ser un neurofibroma. La evolución posquirúrgica fue satisfactoria. Se discuten las singularidades de este enfermo sobre la base de criterios diagnósticos de neurofibromatosis tipo I, pero sin neurofibromas periféricos hasta ese momento. La posibilidad de una neurofibromatosis segmentaria tampoco se descarta. Se hace énfasis en la necesidad de resección de cualquier lesión tumoral en el contexto de este síndrome genético por la frecuencia de lesiones malignas asociadas a la neurofibromatosis y a la progresión hacia la malignidad de lesiones primariamente benignas(AU)


A patient with a family history of Neurofibromatosis type I was presented. The patient referred symptoms and signs suggestive of that disease and complaint of left paravertebral chest pain. Imaging investigations were done and a posterior mediastinal tumor was diagnosed. It is important to highlight the presence of characteristics spot of neurofibromatosis localized only in one dermatome without neurofibromas in any other part of the body. The patient underwent a surgical intervention and a left thoracotomy was done, a large posterior mediastinal tumor was found and totally resected. The histology confirmed a neurofibroma. The postoperative evolution was satisfactory. The singularities of this patient were discussed, especially diagnosis criteria for neurofibromatosis type I, and the lack of peripheral neurofibromas until that moment. The possibility for a segmental neurofibromatosis also was considered. We pointed out about the necessity to remove any neoplastic lesion in the background of this genetic syndrome due to the high frequency of malignancies associated with neurofibromatosis, and also related with the malignant degeneration these tumors can develop(AU)


Subject(s)
Humans , Male , Adult , Mediastinum/injuries , Neurofibromatosis 1 , Neurofibroma/surgery , Thoracotomy/adverse effects
6.
Rev. Asoc. Odontol. Argent ; 105(1): 9-11, mar. 2017. ilus
Article in Spanish | LILACS | ID: biblio-869387

ABSTRACT

Objetivo: Informar, a partir de la descripción de un caso clínico, la presencia de un neurofiboma solitario, lesión poco frecuente en cavidad bucal.Caso clínico: Un paciente de sexo masculino, de 47 años de edad, reconsultó por un bulto asintomático en la zona posterior de mucosa yugal izquierda. A partir de los datos de la historia clínica y de estudios complementarios, se procedió a efectuar la extirpación quirúrgica de la lesión, para luego realizar la biopsia y la anatomía patológica. Los resultadosconfirmaron la presencia de un neurofibroma solitario en cavidad bucal, en un sitio poco frecuente, como lo es la mucosa yugal. Conclusión: Si bien el neurofibroma es una lesión poco frecuente en cavidad bucal, su diagnóstico y su tratamiento oportuno son fundamentales para evitar posibles recidivas o transformaciones malignas.


Aim: To report and describe the presence of a solitaryneurofiboma, infrequent injury in the oral cavity, from the reportof a clinical case.Case report: A 47-year-old male patient consulted froman asymptomatic lump in the posterior area of the left jugularmucosa. From the data of the clinical history and complementarystudies, the surgical excision of the lesion was carriedout, after which the biopsy and the pathological anatomystudy were performed. The results confirmed the presence ofa solitary neurofibroma in the oral cavity, in a rare site, suchas the jugular mucosa.Conclusion: Although the neurofibroma is a rare lesionin the oral cavity, its diagnosis and timely treatment are fundamentalto avoid possible recurrences or malignant transformations.


Subject(s)
Humans , Male , Middle Aged , Mouth Mucosa/pathology , Mouth Neoplasms/classification , Neurofibroma/surgery , Neurofibroma/diagnosis , Argentina , Biopsy/methods , Cheek/pathology , Oral Surgical Procedures/methods , Recurrence
7.
Rev. cuba. cir ; 55(4): 325-333, oct.-dic. 2016. ilus
Article in Spanish | LILACS | ID: biblio-844835

ABSTRACT

Los neurofibromas son tumores benignos del sistema nervioso que pueden ser solitarios o múltiples: la neurofibromatosis o enfermedad de Von Recklinghausen. Estos tumores en general son de consistencia blanda, frecuentes a nivel de partes blandas, su localización en el aparato digestivo es infrecuente y no son encapsulados. El objetivo del presente trabajo fue presentar el caso de una paciente con neurofibroma mesentérico sin enfermedad de Von Recklinghausen. Se presenta el caso de una paciente de 41 años que fue ingresada por dolor abdominal y una tumoración palpable en la región entre flanco e hipocondrio izquierdo. En los estudios imaginológicos realizados se informó como quiste del mesenterio, lo que fue confirmado en el acto quirúrgico. Se realizó exéresis de la tumoración informada por Anatomía Patológica como neurofibroma secundariamente enquistado benigno. El neurofibroma mesentérico es una tumoración que puede verse en pacientes sin enfermedad de Von Recklinghausen.


Neurofibromas are benign tumors of the nervous system that can be solitary or multiple, the neurofibromatosis or Recklinghausen's disease. In general, these tumors are soft, non-encapsulated, more frequent in soft parts of the body and infrequent in the digestive system. The objective of the present paper was to present a female patient with mesenteric neurofibroma and without Von Recklinghausen disease. Here is a 41 years-old female patient who was admitted to the hospital because she suffered abdominal pain and a palpable tumor at the region between left flank and hypochondrium. The imaging studies revealed a mesenteric cyst, which was confirmed in surgery. The tumor was classified as a benign cyst neurofibroma by pathological anatomy and finally removed. The mesenteric neurofibroma is a tumor that can be found in patients without Von Recklinghausen disease.


Subject(s)
Adult , Mesentery/surgery , Neurofibroma/diagnosis , Neurofibroma/surgery , Peritoneal Neoplasms/diagnosis , Peritoneal Neoplasms/surgery
8.
Arq. neuropsiquiatr ; 72(4): 312-317, abr. 2014. tab, graf
Article in English | LILACS | ID: lil-707017

ABSTRACT

Objective: Observe whether a microsurgical gross total removal (GTR) of a spinal nerve sheath tumors (SNSTs) is safe and decreases the tumor recurrence. Method: We identify 30 patients with 44 SNSTs. Results: We operated upon 15 males and 15 females patients; mean age 40 years. GTR was achieved in 29 (96.6%) instances. Surgical mortality was 3.3% and the recurrence rate was 3.3%. The median follow-up time was 6.2 years. Conclusion: The surgical approach used in this group of patients afford that the great majority of tumors could be totally removed with low mortality and low recurrence rates, proving to be safe and effective. .


Objetivo: Observar se a ressecção microcirúrgica completa dos shwannomas ou neurofibromas raquianos é uma técnica segura e efetiva. Método: Foram operados 30 pacientes com 44 schwannomas ou neurofibromas intrarraquiano. Resultados: A remoção total da lesão ocorreu em 27 casos (96.6%). A taxa de mortalidade cirúrgica observada nesta série foi de 3.3%. O tempo médio de seguimento foi de 6.2 anos. Conclusão: A estratégia microcirúrgica empregada com esses pacientes propiciou a remoção total dos tumores na maioria dos pacientes, com baixa mortalidade e recidiva tumoral, mostrando ser segura e efetiva. .


Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Microsurgery/methods , Nerve Sheath Neoplasms/surgery , Neurilemmoma/surgery , Neurofibroma/surgery , Spinal Neoplasms/surgery , Magnetic Resonance Imaging , Microdissection/methods , Neoplasm Recurrence, Local , Nerve Sheath Neoplasms , Neurilemmoma , Neurofibroma , Reproducibility of Results , Spinal Neoplasms , Spinal Nerve Roots/surgery , Treatment Outcome
10.
Article in English | IMSEAR | ID: sea-142906

ABSTRACT

We report a case of neurofibroma arising from the left phrenic nerve and not associated with neurofibromatosis in a 46-year-old male. The patient presented with gradually progressive breathlessness and pain in chest for six months. Radiological investigations revealed a posterior mediastinal mass on the left side of the chest. On postero-lateral thoracotomy, the resected tumour was found to be arising from the phrenic nerve. Histopathological examination confirmed it to be a neurofibroma. Absence of any other distinctive lesions of neurofibromatosis makes this an unusual presentation.


Subject(s)
Adult , Humans , Male , Mediastinal Diseases/diagnosis , Mediastinal Diseases/diagnostic imaging , Neurofibroma/diagnosis , Neurofibroma/diagnostic imaging , Neurofibroma/surgery , Neurofibromatoses/diagnosis , Neurofibromatoses/diagnostic imaging , Neurofibromatoses/surgery , Thoracic Surgical Procedures/methods , Thorax , Phrenic Nerve
11.
Rev. bras. cir. plást ; 27(2): 336-339, abr.-jun. 2012. ilus
Article in Portuguese | LILACS | ID: lil-648510

ABSTRACT

Neurofibromatose é uma doença de origem genética autossômica dominante composta por três tipos: neurofibromatose tipo 1 (NF1), neurofibromatose tipo 2 (NF2) e schwannomatose. As principais características da NF1 são mancha café com leite, neurofibromas dérmicos e plexiformes, falsas efélides axilares ou inguinais e nódulos de Lisch. Neste trabalho é apresentado o caso de um paciente do sexo masculino, 26 anos de idade, com relato de aparecimento de pequenos nódulos cutâneos desde os 3 anos de idade e manchas café com leite disseminadas e de diferentes dimensões. Após os 13 anos de idade, o paciente apresentou crescimento acelerado de volumosa massa em dorso e abdome, impossibilitando a deambulação e causando afastamento do convívio social. O tratamento cirúrgico foi constituído de exérese do tumor em duas etapas, com intervalo de 2 meses. Não existe cura para a neurofibromatose, porém a remoção cirúrgica está indicada nos casos em que há dor, déficit neurológico, desfiguramento, comprometimento de estruturas adjacentes e suspeita de malignidade. São aceitáveis ressecções parciais, quando não houver possibilidade de exérese total. O tratamento cirúrgico realizado constituiu ótima opção para o tratamento do presente caso, uma vez que permitiu a exérese da lesão, com cicatrização satisfatória de ótimo aspecto estético e melhora da qualidade de vida do paciente.


Neurofibromatosis is a disease of genetic origin with autosomal dominant inheritance that is classified into 3 types: neurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. The main characteristics of NF1 are café-au-lait spots, dermal and plexiform neurofibromas, false dermal and plexiform neurofibromas, false axillary or inguinal ephelides, and Lisch nodules. This study describes the case of a 26-year-old man who presented with small cutaneous nodules, present since he was 3 years old, and café-au-lait spots of different sizes distributed diffusely. At the age of 13, the patient developed a mass in the back and abdomen that subsequently developed into a rapidly growing voluminous mass, which hindered walking and caused social isolation. The surgical treatment consisted of the excision of the tumor in 2 phases, with a 2-month interval between procedures. Although a cure for neurofibromatosis has not been discovered, surgical removal is indicated in cases of neurological involvement, pain, disfigurement, possible involvement of adjacent structures, and suspicion of malignancy. Partial resection is acceptable if total removal is not possible. In the present case, surgical treatment was an excellent choice because it enabled the complete excision of the lesion, with satisfactory wound healing and aesthetic results, as well as the improvement of the quality of life of the patient.


Subject(s)
Humans , Male , Young Adult , Cafe-au-Lait Spots , Neurofibroma/surgery , Neurofibromatosis 1/surgery , Surgical Procedures, Operative , Wounds and Injuries , Methods , Patients , Therapeutics
12.
Rev. bras. cir. plást ; 26(3): 546-549, July-Sept. 2011. ilus
Article in English, Portuguese | LILACS | ID: lil-608220

ABSTRACT

The authors present an unusual case of plexiform neurofibroma affecting the upper limb in a patient diagnosed with type 1 neurofibromatosis. Tumor resection was performed on the median nerve. The patient showed maintenance of limb function and remission of symptoms of pain after four years of follow-up.


Os autores apresentam um caso incomum de neurofibroma plexiforme acometendo o membro superior, com diagnóstico de neurofibromatose do tipo 1. Realizou-se a ressecção do tumor no nervo mediano. A paciente evoluiu com manutenção da função do membro e remissão dos sintomas de dor após seguimento de quatro anos.


Subject(s)
Humans , Female , Child, Preschool , History, 21st Century , Surgery, Plastic , Neurofibromatosis 1 , Neurofibroma, Plexiform , Upper Extremity , Desiccation , Median Nerve , Nerve Fibers , Neurofibroma , Surgery, Plastic/methods , Neurofibromatosis 1/surgery , Neurofibromatosis 1/therapy , Neurofibroma, Plexiform/surgery , Neurofibroma, Plexiform/therapy , Upper Extremity/surgery , Desiccation/methods , Median Nerve/surgery , Median Nerve/transplantation , Nerve Fibers/transplantation , Neurofibroma/surgery , Neurofibroma/complications , Neurofibroma/therapy
13.
Int. j. morphol ; 29(3): 1054-1057, Sept. 2011. ilus
Article in English | LILACS | ID: lil-608705

ABSTRACT

Intraparotid facial nerve neurofibromas are a rare entity, and are grossly and histopathologically distinct from the comparatively more prevalent schwannomas. We report a rare case of an intraparotid facial nerve neurofibroma with intratemporal extension in a 48-year-old female. The tumor was surgically excised with cable grafting of the facial nerve. Electroneurography may eventually assist in the preoperative diagnosis. Facial nerve resection should be more readily contemplated in a patient with neurofibroma than in a patient with schwannoma; however, facial nerve preservation with serial follow-up electroneurography and computerized tomography remains a viable option in patients with small facial nerve neurofibromas when electrical testing reveals minimal evidence of progressive neural degeneration. Close monitoring, especially in neurofibromas associated with Von Recklinghausen's disease, is mandatory because of an increased risk of sarcomatous degeneration.


Los neurofibromas intraparotídeos del nervio facial son una entidad poco frecuente, macroscópicamente e histopatológicamente diferentes de los comparativamente más frecuentes schwannomas. Se presenta un caso raro de un neurofibroma del nervio facial con extensión intraparotídea intratemporal en una mujer de 48 años de edad. El tumor se extirpó quirúrgicamente con injerto del nervio facial. La electroneurografía puede llegar a ayudar en el diagnóstico preoperatorio. La resección del nervio facial debe ser realizada con mayor facilidad en un paciente con neurofibroma que en un paciente con schwannoma, sin embargo, la preservación del nervio facial con electroneurografía de seguimiento y tomografía computarizada sigue siendo una opción viable en pacientes con pequeños neurofibromas del nervio facial, cuando las pruebas eléctricas revelan mínima evidencia de degeneración neuronal progresiva. Una estrecha vigilancia, especialmente en los neurofibromas asociados con la enfermedad de Von Recklinghausen es fundamental debido al aumento del riesgo de degeneración sarcomatosa.


Subject(s)
Middle Aged , Facial Nerve/surgery , Neurofibroma/surgery , Neurofibroma , Tomography, X-Ray Computed , Transplants
14.
An. bras. dermatol ; 86(3): 569-572, maio-jun. 2011. ilus
Article in Portuguese | LILACS | ID: lil-592155

ABSTRACT

Neurofibroma é uma proliferação hamartomatosa de origem neuromesenquimal. Pode ser encontrado associado à neurofibromatose ou como tumor solitário, sendo sua apresentação subungueal solitária bastante rara. É mais frequente em pacientes do sexo feminino e a cirurgia é o tratamento de escolha. Relatase um caso de um paciente masculino, com lesão tumoral subungueal no pododáctilo, cuja biópsia e imuno-histoquímica foram compatíveis com neurofibroma. Até a presente data, menos de dez casos sobre neurofibromas subungueais sem associação com doença de Von Recklinhausen foram documentados, sendo este o primeiro caso relatado no Brasil e o único no sexo masculino no mundo.


A neurofibroma is a hamartomatous proliferation of neuromesenchymal origin. It may be found in combination with neurofibromatosis or in the form of a solitary tumor. Clinical presentation as a solitary subungual tumor is very rare. Neurofibroma is more common in females and surgery is the treatment of choice. The present paper reports the case of a male patient with a subungual tumor on his toe. Biopsy and immunohistochemistry findings were compatible with a neurofibroma. To date, fewer than ten cases of subungual neurofibromas unassociated with von Recklinghausen's disease have been documented, this being the first case to be reported in Brazil and the only report worldwide to have described this condition in a male patient.


Subject(s)
Humans , Male , Middle Aged , Nail Diseases/pathology , Neurofibroma/pathology , Skin Neoplasms/pathology , Immunohistochemistry , Nail Diseases/surgery , Neurofibroma/surgery , Skin Neoplasms/surgery
16.
Pan Arab Journal of Neurosurgery. 2009; 13 (2): 112-114
in English | IMEMR | ID: emr-137007

ABSTRACT

Extradural dumbbell shaped neurofibroma in paediatric patients is very rare. A case of extradural dumbbell neurofibroma in a 17-year-old girl who presented with neck pain and slowly progressive neck swelling. On imaging a dumbbell neruofibroma arising from left C2 nerve root was diagnosed. The case is presented here for its rarity, its extremely good postoperative outcome together with its radiological features. Cervical neruofibroma needs to be considered in the differential diagnosis of high cervical myelopathy in children despite its rarity


Subject(s)
Humans , Female , Neurofibroma/surgery , Spinal Neoplasms , Nerve Sheath Neoplasms/diagnosis , Pediatrics , Cervical Vertebrae , Diagnosis, Differential
17.
Arq. bras. neurocir ; 27(3): 96-101, set. 2008. ilus
Article in Portuguese | LILACS | ID: lil-551107

ABSTRACT

Introdução: Tumores do plexo lombossacral(TPLS)são raros. Entre estes, neurofibromas e schwannomas são os mais comuns. Em geral, atingem grandes proporções, sendo, na maioria das vezes, detectados incidentalmente durnate investigações de sintomas inespecíficos, tais como dor abdominal, dor lombar e constipação. Por vezes, comprometem a coluna vertebral, provocando destruição dos corpos vertebrais e/ou alargamento dos farames intervertebrais, podendo haver invasão do canal vertebral. Objetivo: Relatar os casos de dois pacientes que apresentavam volumosas massas retroperitoneais revomidas cirurgicamente. O acesso cirúrgico foi realizado pela equipe da cirurgia geral, e a equipe de neurocirurgia procedeu a ressecção de ambos os tumores por meio de dissecção microcirúrgica no interior do músculo psoas maior. o exame histopatológico diagnosticou neurofibroma e schwannoma, não relacionados à neurofibromatose tipo 1(NF1).Conclusão: Os TPLS são lesões cujo tratamento deve ser cirúrgico, realizado por equipe multidisciplinar, utilizando técnicas de microcirurgia para obtenção de um bom resultado funcional com possibilidade de ressecção total sem déficit neurológico.


Subject(s)
Male , Female , Middle Aged , Humans , Neurilemmoma/surgery , Neurilemmoma/complications , Neurilemmoma/diagnosis , Neurofibroma/surgery , Neurofibroma/complications , Neurofibroma/diagnosis , Lumbosacral Plexus/surgery , Lumbosacral Plexus/injuries
19.
Arq. bras. endocrinol. metab ; 52(1): 131-133, fev. 2008. ilus
Article in Portuguese | LILACS | ID: lil-477443

ABSTRACT

A neurofibromatose tipo 1 (NF1), também conhecida como doença de von Recklinghausen, é uma doença autossômica dominante com alto grau de variabilidade da expressão clínica, comumente envolvida na formação de tumorações na maioria das vezes de origem benigna, localizadas principalmente na região da cabeça e do pescoço, sendo a tireóide acometida raramente. Porém existe na literatura a associação com carcinoma medular da tireóide (CMT), necessitando sempre sua exclusão. Relatamos o caso de uma paciente com NF1, com um nódulo de tireóide não-funcionante e sintomas obstrutivos. Foi realizada ressecção cirúrgica da lesão, com achados histopatológicos compatíveis com neurofibroma em tecido tireoidiano. A importância desse caso deve-se não só à raridade dessa apresentação da NF1, mas também à possibilidade de associação desta com CMT, tumor agressivo com possibilidade de cura pela ressecção cirúrgica.


The neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is an autosomal dominant disorder, with high degree of variability of clinical expression, usually involved with formation of tumors, with benign origin in the majority of cases mainly localized in the region of the head and neck and rarely incident in the thyroid area. However, the association with medullary carcinoma of the thyroid (MCT) exists in literature and needs to be excluded. We report a case of a patient with NF1, nonfunctional thyroid nodule and obstructive symptoms. Surgical resection of lesion was performed, with histopathologic findings compatible with neurofibroma in thyroid tissue. This case is relevant not only because of the rarity of the presentation of NF1, but also due to the likely association with MCT, an aggressive tumor that can be cured by surgery.


Subject(s)
Adult , Female , Humans , Carcinoma, Medullary/pathology , Neurofibroma/pathology , Neurofibromatosis 1/pathology , Thyroid Gland/pathology , Thyroid Neoplasms/pathology , Biopsy , Carcinoma, Medullary/surgery , Diagnosis, Differential , Neurofibroma/surgery , Neurofibromatosis 1/surgery , Thyroid Gland/surgery , Thyroid Neoplasms/surgery , Thyroid Nodule/pathology
20.
Acta Medica Iranica. 2008; 46 (4): 345-348
in English | IMEMR | ID: emr-85625

ABSTRACT

Neurofibromatosis is a benign neurogenic tumor, originating from Schwann cells of the nerve sheath. This tumor forms a round, white mass on the course of the involved nerve. It occurs sporadically or in association with von Recklinghausen's disease. Laryngeal involvement is a rare occasion that affects women more than men [F/M ratio 3:2]. The most common symptoms are hoarseness, dyspnea and dysphagia. The most common sites of origin are arytenoids and aryepiglottic folds. Because of benign nature of this tumor, conservative surgery is recommended as the management of choice. Only few cases of laryngeal involvement have been reported in literature and this article presents two cases of laryngeal neurofibroma with brief review of literatures. Both cases presented with submucosal, non-ulcerated, endolaryngeal mass with signs and symptoms of airway compromise. In both cases surgical approach was endolaryngeal conservative surgery with CO[2] laser


Subject(s)
Humans , Male , Neurofibroma/surgery , Laryngeal Neoplasms , Review Literature as Topic , Lasers, Gas , Dyspnea , Laryngoscopy , Arytenoid Cartilage/pathology , Laryngeal Muscles/pathology , Glottis/pathology
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