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1. Neurofibromatosis: part 2 – clinical management

Author

Pollyanna Barros Batista, Eny Maria Goloni Bertollo, Danielle de Souza Costa, Lucas Eliam, Karin Soares Gonçalves Cunha, José Renan Cunha-Melo, Luiz Guilherme Darrigo Junior, Mauro Geller, Ingrid Faria Gianordoli-Nascimento, Luciana Gonçalves Madeira, Hérika Martins Mendes, Débora Marques de Miranda, Nikolas Andre Mata-Machado, Eric Grossi Morato, Érika Cristina Pavarino, Luciana Baptista Pereira, Nilton Alves de Rezende, Luíza de Oliveira Rodrigues, Jorge Bezerra Cavalcanti Sette, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin Martins, Eugênia Ribeiro Valadares, Paula Vieira Teixeira Vidigal, Vanessa Waisberg, Yehuda Waisberg, and Luiz Oswaldo Carneiro Rodrigues

Subjects
neurofibromatoses, neurofibromatose 1, neurofibromatose 2, schwannomatose, síndrome de Legius, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

Published
2015
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2. Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Author

Luiz Oswaldo Carneiro Rodrigues, Pollyanna Barros Batista, Eny Maria Goloni-Bertollo, Danielle de Souza-Costa, Lucas Eliam, Miguel Eliam, Karin Soares Gonçalves Cunha, Luiz Guilherme Darrigo Junior, José Roberto Lopes Ferraz Filho, Mauro Geller, Ingrid F. Gianordoli-Nascimento, Luciana Gonçalves Madeira, Leandro Fernandes Malloy-Diniz, Hérika Martins Mendes, Débora Marques de Miranda, Erika Cristina Pavarino, Luciana Baptista-Pereira, Nilton A. Rezende, Luíza de Oliveira Rodrigues, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin, Eugênia Ribeiro Valadares, and Paula Vieira Teixeira Vidigal

Subjects
neurofibromatoses, neurofibromatose tipo 1, neurofibromatose tipo 2, schwannomatose, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Published
2014
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3. Neurofibromatosis: part 2 – clinical management

Author

Eric Grossi Morato, Hérika Martins Mendes, Nilton Alves de Rezende, Juliana Ferreira de Souza, Aline Stangherlin Martins, Eny Maria Goloni Bertollo, Pollyanna Barros Batista, Lucas Eliam, Vanessa Waisberg, Luciana Baptista Pereira, Eugênia Ribeiro Valadares, Yehuda Waisberg, Ingrid Faria Gianordoli-Nascimento, Luíza de Oliveira Rodrigues, Nikolas Andre Mata-Machado, Jorge Bezerra Cavalcanti Sette, Mauro Geller, Érika Cristina Pavarino, Luiz Oswaldo Carneiro Rodrigues, Luciana Gonçalves Madeira, Paula Vieira Teixeira Vidigal, Débora Marques de Miranda, Marcio Leandro Ribeiro de Souza, Karin Soares Gonçalves Cunha, Luiz Guilherme Darrigo Junior, Carla Menezes da Silva, José Renan Cunha-Melo, and Danielle de Souza Costa

Subjects
Optic Nerve Glioma, schwannomatose, Neurofibromatosis 2, medicine.medical_specialty, Pediatrics, Neurofibromatosis 1, Skin Neoplasms, neurofibromatosis type 2, Genetic counseling, neurofibromatosis type 1, lcsh:RC321-571, Risk Factors, medicine, Humans, Neurofibromatosis type 2, Neurofibromatosis, Schwannomatosis, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Neurofibromatoses, Legius syndrome, schwannomatosis, neurofibromatosis, business.industry, Disease Management, Guideline, neurofibromatose 2, neurofibromatose 1, medicine.disease, neurofibromatoses, Surgery, Neurology, síndrome de Legius, Neurology (clinical), Differential diagnosis, business, Neurilemmoma
Abstract

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1. 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 sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Published
2015

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