Neurofibromatosis type 1 (musculoskeletal manifestations)

Musculoskeletal manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are relatively common among these patients with skeletal abnormalities occurring in up to 50% of them 1.

For a general discussion of the underlying condition, please refer to the article on neurofibromatosis type 1

Clinical presentation

Mass effect and pressure-induced changes caused by skin and soft tissue enlargement associated with plexiform neurofibromas may cause deformities on the underlying bone.

Spinal deformities are common in patients with NF1, occurring in up to 50%. Scoliosis can occur in 21% of NF1 patients 1.

Bowing and pseudoarthrosis are related to mesodermal dysplasia and can occur in a variety of bones, but commonly affects the tibia. 

Neoplasms

In result of the inactivation of a tumour suppressor gene, NF1 is also associated with increased incidence of numerous tumours, such as rhabdomyosarcoma.

Radiographic features

The imaging spectrum includes

  • kyphoscoliosis
  • vertebral scalloping: can be associated with dural ectasia or neurofibromas
  • dural ectasia
  • hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina
  • transverse process spindling
  • enlarged neural foramina
  • ribbon rib deformityrib notching and dysplasia 
  • extrinsic pressure may result in deficient bone formation that could be expressed as cortical thinning, erosive defects, sclerosis and periosteal proliferation 
  • tibial pseudoarthrosis or less commonly ulnar pseudoarthrosis
  • bony dysplasias: especially affecting tibia
  • severe bowing: both lateral and anterior 
  • multiple NOF: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins 
  • limb hemihypertrophy

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Article Information

rID: 31273
Synonyms or Alternate Spellings:
  • Skeletal manifestations of NF1
  • Skeletal manifestations of neurofibromatosis type 1
  • Musculoskeletal manifestations of neurofibromatosis type 1

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Cases and Figures

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    Tibial pseudoarth...
    Case 1: tibial and ulnar pseudoarthrosis
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    Case 2: ulnar pseudoarthrosis
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    Case 3: foraminal enlargement
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    Case 4: with cord compression
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    NF1

Multiple ner...
    Case 5: ribbon-ribs deformity
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    T2 AXI: Plexiform...
    Case 6: plexiform neurofibroma of thigh
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    Case 7: cervical neurofibromas
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    Case 8: plexiform neurofibroma of foot
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    Case 9: intraspinal neurofibroma
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    Case 10: plexiform neurofibroma femoral nerve
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    Case 11: neurofibromas dorsal nerve roots
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