Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

• Main Authors: 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, Paula Vieira Teixeira Vidigal
• Format: Article
• Language: English
• Published: Academia Brasileira de Neurologia (ABNEURO) 2014-03-01
• Series: Arquivos de Neuro-Psiquiatria
• Subjects: neurofibromatoses; neurofibromatose tipo 1; neurofibromatose tipo 2; schwannomatose
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000300241&lng=en&tlng=en

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.