Neurofibromas in children with neurofibromatosis 1

J Child Neurol. 2002 Aug;17(8):585-91; discussion 602-4, 646-51. doi: 10.1177/088307380201700808.

Abstract

Neurofibromatosis 1 is a common autosomal dominant disease reported in approximately 1 in 3000 individuals. Although some features of neurofibromatosis 1, such as café-au-lait spots and Lisch nodules, are clinically silent, neurofibromas cause a significant degree of morbidity, mortality, and cosmetic disfigurement. Childhood through early adulthood is a vulnerable period for the growth of these lesions. Neurofibromas are a heterogeneous group of benign tumors that grow from intraneural and extraneural tissues. These tumors take on different morphology, grow at variable rates, and occur in multiple locations. Symptoms arise as neurofibromas enlarge, compressing and distorting local structures. The unpredictable nature of neurofibromas has a serious impact on the quality of life of patients with neurofibromatosis 1, and their management is challenging for physicians. Surgical removal remains the mainstay of treatment. However, advances in the understanding of the genetics and pathogenesis of neurofibromatosis 1 have led to the development of promising new biologically directed therapies. The purpose of this review is to summarize the defining characteristics, incidence, clinical course, management options, and outcome of neurofibromas in children with neurofibromatosis 1.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Cell Transformation, Neoplastic / genetics
  • Child
  • Child, Preschool
  • Humans
  • Infant
  • Nerve Sheath Neoplasms / diagnosis
  • Nerve Sheath Neoplasms / genetics
  • Nerve Sheath Neoplasms / therapy
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / therapy
  • Prognosis
  • Quality of Life
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Skin Neoplasms / therapy
  • Soft Tissue Neoplasms / diagnosis
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / therapy