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Arq Neuropsiquiatr. 2015 Jun;73(6):531-43. doi: 10.1590/0004-282X20150042.

Neurofibromatosis: part 2--clinical management.

Author information

1
Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
2
Faculdade de Medicina de São José do Rio Preto, Sao Paulo, SP, Brazil.
3
Radiologia Anchieta, Brasília, DF, Brazil.
4
Faculdade de Medicina, Universidade Federal Fluminense, Rio de Janeiro, RJ, Brazil.
5
Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
6
Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
7
Loyola University of Chicago, USA.

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.

PMID:
26083891
DOI:
10.1590/0004-282X20150042
[Indexed for MEDLINE]
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