Neurofibromatosis type 1 (musculoskeletal manifestations)

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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 patients¹.

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
Intrathoracic ~~meningocoele~~meningocele
dural ectasia
hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina
transverse process spindling
enlarged neural foramina
ribbon rib deformity, rib 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 non-ossifying fibromas: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins
limb hemihypertrophy
atrophic thinned / absent fibulas
~~Lambdoidal / Asterion~~lambdoid suture defect: ~~Radiolucency~~radiolucency present near the lambdoidal suture
~~Focal giantism~~localised gigantism

~~-<li>Intrathoracic meningocoele</li>~~
+<li><a title="Lateral thoracic meningocele" href="/articles/lateral-thoracic-meningocele-1">Intrathoracic meningocele</a></li>
~~-<li>Lambdoidal / Asterion defect: Radiolucency present near the lambdoidal suture</li>~~
~~-<li>Focal giantism </li>~~
+<li>lambdoid suture defect: radiolucency present near the lambdoidal suture</li>
+<li>
+<a title="Localised gigantism" href="/articles/localised-gigantism">localised gigantism</a> </li>

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Neurofibromatosis type 1 (musculoskeletal manifestations)

Updates to Article Attributes

Clinical presentation

Neoplasms

Radiographic features

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