Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Arquivos de Neuro-Psiquiatria

Luiz Oswaldo Carneiro Rodrigues¹  Pollyanna Barros Batista¹  Eny Maria Goloni-bertollo¹  Danielle De Souza-costa¹  Lucas Eliam¹  Miguel Eliam¹  Karin Soares Gonçalves Cunha¹  Luiz Guilherme Darrigo Junior¹  José Roberto Lopes Ferraz Filho¹  Mauro Geller¹  Ingrid F. Gianordoli-nascimento¹  Luciana Gonçalves Madeira¹  Leandro Fernandes Malloy-diniz¹  Hérika Martins Mendes¹  Débora Marques De Miranda¹  Erika Cristina Pavarino¹  Luciana Baptista-pereira¹  Nilton A. Rezende¹  Luíza De Oliveira Rodrigues¹  Carla Menezes Da Silva¹  Juliana Ferreira De Souza¹  Márcio Leandro Ribeiro De Souza¹  Aline Stangherlin¹  Eugênia Ribeiro Valadares¹  Paula Vieira Teixeira Vidigal¹ 

关键词: neurofibromatoses;    neurofibromatosis type 1;    neurofibromatosis type 2;    schwannomatosis;    neurofibromatoses;    neurofibromatose tipo 1;    neurofibromatose tipo 2;    schwannomatose;   

DOI  :  10.1590/0004-282X20130241

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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