Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

Clin Genet. 2005 May;67(5):378-90. doi: 10.1111/j.1399-0004.2005.00410.x.


Characteristic skeletal lesions are a cardinal feature of the autosomal dominant condition, neurofibromatosis 1 (NF1). The most frequently involved skeletal sites are the sphenoid wing, vertebrae, and tibia. Osseous lesions may range in severity in NF1 but are often progressive. They may lead to serious clinical consequences and be resistant to treatment. The skeletal lesions of NF1 are usually considered to be 'dysplasias', i.e. primary defects of bone, although there is no direct evidence supporting this interpretation. Moreover, it is difficult to understand why a generalized dysplasia of bone would produce focal lesions that show such a striking predisposition to only a few bones. We review the clinical and pathological features of NF1 skeletal lesions and propose that they result from an abnormal response of NF1 halpoinsufficient bone to abnormal mechanical forces rather than from a primary osseous dysplasia.

Publication types

  • Review

MeSH terms

  • Biomechanical Phenomena
  • Bone Diseases, Developmental / etiology*
  • Bone Diseases, Developmental / genetics
  • Genes, Neurofibromatosis 1*
  • Haplotypes
  • Humans
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics
  • Neurofibromin 1 / physiology
  • Risk Factors
  • Spine / pathology


  • Neurofibromin 1