Bilateral segmental neurofibromatosis: a case report and review

Pediatr Neurol. 2007 Jan;36(1):51-3. doi: 10.1016/j.pediatrneurol.2006.07.011.


Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cafe-au-Lait Spots / genetics
  • Cafe-au-Lait Spots / pathology*
  • Child
  • Genes, Neurofibromatosis 1
  • Humans
  • Male
  • Mosaicism
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology*
  • Phenotype