Rodrigues Luiz Oswaldo Carneiro, Batista Pollyanna Barros, Goloni-Bertollo Eny Maria, de Souza-Costa Danielle, Eliam Lucas, Eliam Miguel, Cunha Karin Soares Gonçalves, Darrigo-Junior Luiz Guilherme, Ferraz-Filho José Roberto Lopes, Geller Mauro, Gianordoli-Nascimento Ingrid F, Madeira Luciana Gonçalves, Malloy-Diniz Leandro Fernandes, Mendes Hérika Martins, de Miranda Débora Marques, Pavarino Erika Cristina, Baptista-Pereira Luciana, Rezende Nilton A, Rodrigues Luíza de Oliveira, da Silva Carla Menezes, de Souza Juliana Ferreira, de Souza Márcio Leandro Ribeiro, Stangherlin Aline, Valadares Eugênia Ribeiro, Vidigal Paula Vieira Teixeira
Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Faculdade de Medicina de Sao Jose do Rio Preto, Universidade de Sao Paulo, Sao Jose do Rio Preto, SP, Brazil.
Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. doi: 10.1590/0004-282x20130241.
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.
神经纤维瘤病（NF）是一组具有遗传性的多发性肿瘤易患疾病，包括1型神经纤维瘤病（NF1）、2型神经纤维瘤病（NF2）和施万细胞瘤病（SCH），它们的肿瘤均起源于神经且有皮肤体征。巴西有近8万人受其影响。近年来，关于神经纤维瘤病的科学知识不断增加，使得临床管理得到改善，并发症发病率降低，神经纤维瘤病患者的生活质量得以提高。在大多数情况下，神经科、精神科、皮肤科、临床遗传学家、肿瘤科和内科专家能够对神经纤维瘤病和其他疾病进行鉴别诊断，并识别主要的神经纤维瘤病并发症。然而，由于其在表型表达、病程进展、多器官受累及不可预测的自然演变方面存在很大差异，神经纤维瘤病通常需要神经纤维瘤病专家的支持以进行恰当治疗和遗传咨询。第1部分提供神经纤维瘤病鉴别诊断的分步指南。第2部分将介绍神经纤维瘤病的临床管理。
