Neurofibromatoses: part 1 - diagnosis and differential diagnosis

Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. doi: 10.1590/0004-282x20130241.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Genetic Testing
  • Humans
  • Neoplasm Grading
  • Neurilemmoma / pathology*
  • Neurofibromatoses / pathology*
  • Neurofibromatosis 1 / pathology*
  • Neurofibromatosis 2 / pathology*
  • Risk Factors
  • Skin Neoplasms / pathology*

Supplementary concepts

  • Schwannomatosis