[Neurofibromatosis]

Neurochirurgie. 1998 Nov;44(4):267-72.
[Article in French]

Abstract

Neurofibromatoses regroup at least two different autosomal dominant disorders, neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 gene and NF2 genes have been respectively localized on chromosomes 17 and 22. NF1 represents 95% of neurofibromatoses cases. Its incidence is 1 for 3,500 newborns, its prevalence 1 for 4,500. NF1 is characterized by its cutaneous manifestations, café au lait spots, lentigines and neurofibromas. NF2 incidence is 1 for 33,000-40,000 newborns. NF2 is characterized by bilateral vestibular schwannomas (former acoustic neurinomas) and other tumors of the central nervous system. The hallmark of schwannomatosis (neurilemmomatosis) is multiple cutaneous or subcutaneous schwannomas without vestibular schwannomas. Different neurofibromatoses are characterized by different prognosis, complications, and genetic counseling. Multidisciplinary centers with trained physicians are ideal structures for management of neurofibromatoses patients.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Diagnosis, Differential
  • France / epidemiology
  • Genes, Dominant*
  • Humans
  • Incidence
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / epidemiology
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics*
  • Prognosis