Neurofibromatosis
Mostrando 13-24 de 235 artigos, teses e dissertações.
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13. Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient
Abstract: Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progre
An. Bras. Dermatol.. Publicado em: 2017-12
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14. The clinical genetics of phaeochromocytoma and paraganglioma
ABSTRACT Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours.
Arch. Endocrinol. Metab.. Publicado em: 2017-09
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15. Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1
Abstract: We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was t
An. Bras. Dermatol.. Publicado em: 2017-03
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16. Syndrome in question
Abstract Neurofibromatosis is extremely variable in its presentation. Segmental neurofibromatosis (SNF), which corresponds to NF-type 5 in the Riccardi classification, is a rare disorder. It may go unrecognized if few lesions are observed. We present a case of segmental neurofibromatosis in a 28 year-old patient who presented with multiple papules and nodule
An. Bras. Dermatol.. Publicado em: 2016-04
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17. Isolated plexiform neurofibroma mimicking a vascular lesion
Abstract Plexiform neurofibromas are benign tumors originating from peripheral nerve sheaths, generally associated with Neurofibromatosis Type 1 (NF1). They are diffuse, painful and sometimes locally invasive, generating cosmetic problems. This report discusses an adolescent patient who presented with an isolated, giant plexiform neurofibroma on her leg that
An. Bras. Dermatol.. Publicado em: 2016-04
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18. Massive Plexiform Neurofibroma of the Neck and Larynx
Introduction Laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. Objectives To report the first case of massive neck plexiform neurofibroma with intralaryngeal (supraglottic) extension in a 5-year-old boy with neurofibromatosis type 1 and to describe its treatment. Resumed Report This massive ple
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-12
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19. Association between atypical parathyroid adenoma and neurofibromatosis
Primary hyperparathyroidism is a disease characterized by excessive production of parathyroid hormone (PTH), which is due to a parathyroid adenoma in 85% of cases. An atypical parathyroid adenoma, with some histopathological features of parathyroid carcinoma, may be found in some of the cases, although it may not fulfill all the criteria for this diagnosis.
Arch. Endocrinol. Metab.. Publicado em: 25/09/2015
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20. Neurofibromatosis: part 2 – clinical management
A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico
Arq. Neuro-Psiquiatr.. Publicado em: 2015-06
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21. Posterior-only spinal fusion without rib head resection for treating type I neurofibromatosis with intra-canal rib head dislocation
OBJECTIVES: Patients with Type I neurofibromatosis scoliosis with intra-canal rib head protrusion are extremely rare. Current knowledge regarding the diagnosis and treatment for this situation are insufficient. The purpose of this study is to share our experience in the diagnosis and surgical treatments for such unique deformities. METHODS: Six patients w
Clinics. Publicado em: 2013-12
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22. Retrolabyrinthine approach for cochlear nerve preservation in neurofibromatosis type 2 and simultaneous cochlear implantation
INTRODUCTION: Few cases of cochlear implantation (CI) in neurofibromatosis type 2 (NF2) patients had been reported in the literature. The approaches described were translabyrinthine, retrosigmoid or middle cranial fossa. OBJECTIVES: To describe a case of a NF2- deafened-patient who underwent to vestibular schwannoma resection via RLA with cochlear nerve pres
Int. Arch. Otorhinolaryngol.. Publicado em: 2013-09
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23. Vitamina D, polimorfismos do gene VDR e neurofibromatose 1
Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene (17q11.2, neurofibromin). The estimated incidence is approximately 1:3500 newborns and clinical diagnosis is possible in the majority cases. A few studies suggest that patients with NF1 are more likely to have vitamin D deficiency when compared
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2012
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24. Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1.
A neurofibromatose tipo 1 (NF1) em crianças e adolescentes está frequentemente associada com o aparecimento ou desaparecimento de lesões focais de hipersinal no encéfalo na ponderação T2 (FHE-T2). Estas lesões não são aceitas como critério diagnóstico para NF1 e sua natureza exata ainda não está clara. Objetivos: artigo 1: Avaliar a relação en
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 21/10/2011