Schwannomatosis: the overlooked neurofibromatosis?

AJR Am J Roentgenol. 2013 Jun;200(6):W646-53. doi: 10.2214/AJR.12.8577.


Objective: Schwannomas are typically benign tumors that occur sporadically, in neurofibromatosis type 2 (NF2), or in an entity called "schwannomatosis." Schwannomatosis patients develop multiple schwannomas without involvement of the vestibular apparatus. Geneticists, neurologists, and pathologists have recognized that schwannomatosis is distinct from NF2, but schwannomatosis remains unfamiliar to many radiologists. This article reviews the current medical literature, highlighting the similarities and differences between the schwannomatosis and NF2 phenotypes, genotypes, clinical manifestations, management considerations, and imaging findings.

Conclusion: Imaging plays a critical role in diagnosing schwannomatosis, and a basic understanding of this syndrome is of interest to diagnostic radiologists. Moreover, it is imperative that radiologists be able to differentiate schwannomatosis from NF2 on imaging because there are significant differences in the management of these two diseases and clinical outcomes for affected patients.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Diagnostic Imaging*
  • Humans
  • Neurilemmoma / diagnosis*
  • Neurilemmoma / epidemiology
  • Neurilemmoma / genetics
  • Neurilemmoma / therapy
  • Neurofibromatoses / diagnosis*
  • Neurofibromatoses / epidemiology
  • Neurofibromatoses / genetics
  • Neurofibromatoses / therapy
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / epidemiology
  • Neurofibromatosis 2 / genetics
  • Neurofibromatosis 2 / therapy
  • Phenotype
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / epidemiology
  • Skin Neoplasms / genetics
  • Skin Neoplasms / therapy

Supplementary concepts

  • Schwannomatosis