Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway

Dermatol Online J. 2011 Apr 15;17(4):4.

Abstract

Neurofibromatosis-Noonan syndrome is an entity that combines both features of Noonan syndrome and Neurofibromatosis type 1. This phenotypic overlap can be explained by the involvement of the RAS-MAPK pathway (mitogen-activated protein kinase) in both disorders. We report the case of a 17-year-old boy with Neurofibromatosis 1 with Noonan-like features, who complained of the progressive appearance of blue-gray lesions on his back.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Back
  • Humans
  • Male
  • Mitogen-Activated Protein Kinases / genetics
  • Mitogen-Activated Protein Kinases / metabolism*
  • Mutation
  • Neurofibromatoses / genetics
  • Neurofibromatoses / metabolism
  • Neurofibromatoses / pathology*
  • Noonan Syndrome / genetics
  • Noonan Syndrome / metabolism
  • Noonan Syndrome / pathology*
  • ras Proteins / genetics
  • ras Proteins / metabolism*

Substances

  • Mitogen-Activated Protein Kinases
  • ras Proteins

Supplementary concepts

  • Neurofibromatosis-Noonan syndrome