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 NF1.
Clinical presentation
Mass effect and pressure-induced changes caused by skin and soft tissues 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 occurs 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
- kyphoscoliosis
- posterior vertebral scalloping (can be associated with dural ectasia or neurofibromas)
- hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina.
- transverse process spindling
- enlarged neural foramina
- ribbon rib deformity, rib notching and dysplasia
- dural ectasia
- Extrinsic pressure may result in deficiente 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
- multiple NOF: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins
- limb hemi hypertrophy
-<p><strong>Musculoskeletal manifestations of Neurofibromatosis type 1 (NF1), </strong>or <strong>von Recklinghausen disease,</strong> are relatively common among these patients with skeletal abnormalities occurring in up to 50% of them <sup>1</sup>.</p><p>For a general discussion of the underlying condition, please refer to the article <a href="/articles/neurofibromatosis-type-1">NF1</a>. </p><h4>Clinical presentation</h4><p> </p><h5>Neoplasms</h5><p>In result of the inactivation of a tumour suppressor gene, NF1 is also associated with increased incidence of numerous tumours, such as <a style="font-size: 13px; line-height: 1.6em;" href="/articles/rhabdomyosarcoma">rhabdomyosarcoma</a>.</p><h4>Radiographic features</h4><ul>- +<p><strong>Musculoskeletal manifestations of Neurofibromatosis type 1 (NF1), </strong>or <strong>von Recklinghausen disease,</strong> are relatively common among these patients with skeletal abnormalities occurring in up to 50% of them <sup>1</sup>.</p><p>For a general discussion of the underlying condition, please refer to the article <a href="/articles/neurofibromatosis-type-1">NF1</a>. </p><h4>Clinical presentation</h4><p>Mass effect and pressure-induced changes caused by skin and soft tissues enlargement associated with <a href="/articles/plexiform-neurofibroma">plexiform neurofibromas</a> may cause deformities on the underlying bone.</p><p>Spinal deformities are common in patients with NF1, occurring in up to 50%. Scoliosis occurs in 21% of NF1 patients<sup> 1</sup>.</p><p>Bowing and pseudoarthrosis are related to mesodermal dysplasia and can occur in a variety of bones, but commonly affects the tibia. </p><p><strong>Neoplasms</strong></p><p>In result of the inactivation of a tumour suppressor gene, NF1 is also associated with increased incidence of numerous tumours, such as <a href="/articles/rhabdomyosarcoma">rhabdomyosarcoma</a>.</p><h4>Radiographic features</h4><ul>
-<li>posterior <a href="/articles/vertebral-scalloping">vertebral scalloping</a>-</li>-<li>hypoplastic posterior elements</li>- +<li>posterior <a href="/articles/vertebral-scalloping">vertebral scalloping</a> (can be associated with dural ectasia or neurofibromas)</li>
- +<li>hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina. </li>
- +<li>transverse process spindling</li>
- +<li>Extrinsic pressure may result in deficiente bone formation that could be expressed as cortical thinning, erosive defects, sclerosis and periosteal proliferation. </li>
-<li>multiple <a href="/articles/non-ossifying-fibroma-1">NOF</a>-</li>- +<li>multiple <a href="/articles/non-ossifying-fibroma-1">NOF</a>: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins </li>
-</ul><ul><li> </li></ul>- +</ul>
References changed:
- 1. Patel N & Stacy G. Musculoskeletal Manifestations of Neurofibromatosis Type 1. AJR Am J Roentgenol. 2012;199(1):W99-106. <a href="https://doi.org/10.2214/AJR.11.7811">doi:10.2214/AJR.11.7811</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/22733937">Pubmed</a>
- 2. Fortman B, Kuszyk B, Urban B, Fishman E. Neurofibromatosis Type 1: A Diagnostic Mimicker at CT. Radiographics. 2001;21(3):601-12. <a href="https://doi.org/10.1148/radiographics.21.3.g01ma05601">doi:10.1148/radiographics.21.3.g01ma05601</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/11353109">Pubmed</a>
Systems changed:
- Musculoskeletal
Images Changes:
Image 1 X-ray (Frontal) ( create )
Image 2 X-ray (Coned frontal) ( create )
Image 3 MRI (T2) ( create )
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