title: Neurofibromatoses: part 1 - diagnosis and differential diagnosis.
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.
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luiz Oswaldo Carneiro
authors.initials: LO
authors.lastname: Rodrigues
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Pollyanna Barros
authors.initials: PB
authors.lastname: Batista
authors.affiliation: Faculdade de Medicina de Sao Jose do Rio Preto, Universidade de Sao Paulo, Sao Jose do Rio Preto, SP, Brazil.
authors.forename: Eny Maria
authors.initials: EM
authors.lastname: Goloni-Bertollo
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Danielle
authors.initials: D
authors.lastname: de Souza-Costa
authors.affiliation: Radiologia Anchieta, Brasilia, DF, Brazil.
authors.forename: Lucas
authors.initials: L
authors.lastname: Eliam
authors.affiliation: Instituto de Neurologia de Goiania, Goiania, GO, Brazil.
authors.forename: Miguel
authors.initials: M
authors.lastname: Eliam
authors.affiliation: Faculdade de Medicina, Universidade Federal Fluminense, Niteroi, RJ, Brazil.
authors.forename: Karin Soares Gonçalves
authors.initials: KS
authors.lastname: Cunha
authors.affiliation: Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Luiz Guilherme
authors.initials: LG
authors.lastname: Darrigo-Junior
authors.affiliation: Faculdade de Medicina de Sao Jose do Rio Preto, Universidade de Sao Paulo, Sao Jose do Rio Preto, SP, Brazil.
authors.forename: José Roberto Lopes
authors.initials: JR
authors.lastname: Ferraz-Filho
authors.affiliation: Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Mauro
authors.initials: M
authors.lastname: Geller
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Ingrid F
authors.initials: IF
authors.lastname: Gianordoli-Nascimento
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luciana Gonçalves
authors.initials: LG
authors.lastname: Madeira
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Leandro Fernandes
authors.initials: LF
authors.lastname: Malloy-Diniz
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Hérika Martins
authors.initials: HM
authors.lastname: Mendes
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Débora Marques
authors.initials: DM
authors.lastname: de Miranda
authors.affiliation: Faculdade de Medicina de Sao Jose do Rio Preto, Universidade de Sao Paulo, Sao Jose do Rio Preto, SP, Brazil.
authors.forename: Erika Cristina
authors.initials: EC
authors.lastname: Pavarino
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luciana
authors.initials: L
authors.lastname: Baptista-Pereira
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Nilton A
authors.initials: NA
authors.lastname: Rezende
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luíza de Oliveira
authors.initials: Lde O
authors.lastname: Rodrigues
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Carla Menezes
authors.initials: CM
authors.lastname: da Silva
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Juliana Ferreira
authors.initials: JF
authors.lastname: de Souza
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Márcio Leandro Ribeiro
authors.initials: ML
authors.lastname: de Souza
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Aline
authors.initials: A
authors.lastname: Stangherlin
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Eugênia Ribeiro
authors.initials: ER
authors.lastname: Valadares
authors.affiliation: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Paula Vieira Teixeira
authors.initials: PV
authors.lastname: Vidigal
mesh_terms: D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D060787:Neoplasm Grading; D009442:Neurilemmoma / Q000473:pathology*; D017253:Neurofibromatoses / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology*; D016518:Neurofibromatosis 2 / Q000473:pathology*; D012307:Risk Factors; D012878:Skin Neoplasms / Q000473:pathology*