Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Neurofibroma (All Variants)

  • Raf SciotEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_5438-1


A benign peripheral nerve sheath tumor consisting of an admixture of Schwann cells, perineural-like cells, fibroblasts, mast cells, and residual axons. Three major types exist: localized (cutaneous or intraneural), diffuse, and plexiform, the latter being pathognomonic for neurofibromatosis type I (NF1).

Clinical Features

  • Incidence

    Neurofibromas are the most common peripheral nerve sheath tumors. The vast majority (90%) is sporadic and solitary. In the context of NF1, multiple tumors are usually present (Fletcher 1990; Woodruff 1999).

  • Age

    The diffuse cutaneous and plexiform tumors are presumably congenital; the localized neurofibromas usually begin to appear in young adulthood.

  • Sex

    Both sexes are equally affected.

  • Site

    Localized neurofibroma usually presents as a cutaneous nodule. Deep-seated localized lesions are less common and more often associated with NF1. Diffuse neurofibromas are ill-defined skin plaques, most common in the trunk/head and neck area. Plexiform...

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References and Further Reading

  1. Beert, E., Brems, H., Daniëls, B., De Wever, I., Van Calenbergh, F., Schoenaers, J., Debiec-Rychter, M., Gevaert, O., De Raedt, T., Van Den Bruel, A., de Ravel, T., Cichowski, K., Kluwe, L., Mautner, V., Sciot, R., & Legius, E. (2011). Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes, Chromosomes & Cancer, 50, 1021–1032.CrossRefGoogle Scholar
  2. Fletcher, C. D. (1990). Peripheral nerve sheath tumors. A clinicopathological update. Pathology Annual, 25(Pt1), 53–74.PubMedGoogle Scholar
  3. Michal, M., Fanburg-Smith, J. C., Mentzel, T., Kutzner, H., Requena, L., Zamecnik, M., & Miettinen, M. (2001). Dendritic cell neurofibroma with pseudorosettes: A report of 18 cases of a distinct and hitherto unrecognized neurofibroma variant. The American Journal of Surgical Pathology, 25, 587–594.CrossRefGoogle Scholar
  4. Miettinen, M. M., Antonescu, C. R., Fletcher, C. D. M., Kim, A., Lazar, A. J., Quezado, M. M., Reilly, K. M., Stemmer-Rachamimov, A., Stewart, D. R., Viskochil, D., Widemann, B., & Perry, A. (2017). Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Human Pathology, 67, 1–10.CrossRefGoogle Scholar
  5. Woodruff, J. M. (1999). Pathology of the peripheral nerve sheath in type 1 neurofibromatosis. American Journal of Medical Genetics, 89, 23–30.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Imaging and Pathology, Translational Cell and Tissue ResearchKU LeuvenLeuvenBelgium