Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Author:

Rodrigues Luiz Oswaldo Carneiro1,Batista Pollyanna Barros1,Goloni-Bertollo Eny Maria2,Souza-Costa Danielle de1,Eliam Lucas3,Eliam Miguel4,Cunha Karin Soares Gonçalves5,Darrigo Junior Luiz Guilherme2,Ferraz Filho José Roberto Lopes2,Geller Mauro6,Gianordoli-Nascimento Ingrid F.1,Madeira Luciana Gonçalves1,Malloy-Diniz Leandro Fernandes1,Mendes Hérika Martins1,Miranda Débora Marques de1,Pavarino Erika Cristina2,Baptista-Pereira Luciana1,Rezende Nilton A.1,Rodrigues Luíza de Oliveira1,Silva Carla Menezes da1,Souza Juliana Ferreira de1,Souza Márcio Leandro Ribeiro de1,Stangherlin Aline1,Valadares Eugênia Ribeiro1,Vidigal Paula Vieira Teixeira1

Affiliation:

1. Universidade Federal de Minas Gerais, Brazil

2. Universidade de São Paulo, Brazil

3. Radiologia Anchieta, Brazil

4. Instituto de Neurologia de Goiânia, Brazil

5. Universidade Federal Fluminense, Brazil

6. Universidade Federal do Rio de Janeiro, Brazil

Abstract

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.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Clinical Neurology

Reference32 articles.

1. Neurofibromatosis - Phenotype, Natural History, and Pathogenesis;Riccardi VM,1999

2. Neurofibromatose: clínica, genética e terapêutica;Geller M,2004

3. Neurofibromatoses in Clinical Practice;Huson SM,2011

4. Neurofibromatoses in clinical practice;Ferner RE,2011

5. Phenotypic variability among cafe-au-lait macules in neurofibromatosis type 1;Boyd KP;J Am Acad Dermatol,2010

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