Diagnostic and Prognostic Relevance of the Cutaneous Manifestations of Neurofibromatosis Type 2

Actas Dermosifiliogr. 2017 Sep;108(7):630-636. doi: 10.1016/j.ad.2016.12.007. Epub 2017 Feb 22.
[Article in English, Spanish]


Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease. Identification of these lesions, when present, can facilitate diagnosis.

Keywords: Café-au-lait spots; Hybrid tumor; Manchas café con leche; Neurofibromatosis tipo 2; Neurofibromatosis type 2; Plexiform schwannoma; Schwannoma; Schwannoma plexiforme; Tumor híbrido.

Publication types

  • Review

MeSH terms

  • Cafe-au-Lait Spots / etiology
  • Cataract / genetics
  • Child
  • Early Diagnosis
  • Genes, Neurofibromatosis 2
  • Humans
  • Hyperpigmentation / genetics
  • Hypertrichosis / genetics
  • Molecular Diagnostic Techniques
  • Neurilemmoma / genetics
  • Neurilemmoma / pathology
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / pathology*
  • Neuroma, Acoustic / diagnostic imaging
  • Neuroma, Acoustic / genetics
  • Prognosis
  • Skin / pathology*
  • Skin Diseases / genetics
  • Skin Diseases / pathology