Neurofibromatosis: part 2 – clinical management

Arquivos de Neuro-Psiquiatria

Pollyanna Barros Batista¹  Eny Maria Goloni Bertollo¹  Danielle De Souza Costa¹  Lucas Eliam¹  Karin Soares Gonçalves Cunha¹  José Renan Cunha-melo¹  Luiz Guilherme Darrigo Junior¹  Mauro Geller¹  Ingrid Faria Gianordoli-nascimento¹  Luciana Gonçalves Madeira¹  Hérika Martins Mendes¹  Débora Marques De Miranda¹  Nikolas Andre Mata-machado¹  Eric Grossi Morato¹  Érika Cristina Pavarino¹  Luciana Baptista Pereira¹  Nilton Alves De Rezende¹  Luíza De Oliveira Rodrigues¹  Jorge Bezerra Cavalcanti Sette¹  Carla Menezes Da Silva¹  Juliana Ferreira De Souza¹  Márcio Leandro Ribeiro De Souza¹  Aline Stangherlin Martins¹  Eugênia Ribeiro Valadares¹  Paula Vieira Teixeira Vidigal¹  Vanessa Waisberg¹  Yehuda Waisberg¹  Luiz Oswaldo Carneiro Rodrigues¹ 

关键词: neurofibromatosis;    neurofibromatosis type 1;    neurofibromatosis type 2;    schwannomatosis;    Legius syndrome;    neurofibromatoses;    neurofibromatose 1;    neurofibromatose 2;    schwannomatose;    síndrome de Legius;   

DOI  :  10.1590/0004-282X20150042

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License