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 is most common and can occur in 21% of NF1 patients¹.

Bowing and ~~pseudoarthrosis~~pseudarthrosis 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 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
lambdoid suture defect: radiolucency present near the lambdoidal suture
localised gigantism

-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 <a href="/articles/neurofibromatosis-type-1">neurofibromatosis type 1</a>. <h4>Clinical presentation</h4>Mass effect and pressure-induced changes caused by skin and soft tissue enlargement associated with <a href="/articles/plexiform-neurofibroma">plexiform neurofibromas</a> 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. <h5>Neoplasms</h5>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>.<h4>Radiographic features</h4>The imaging spectrum includes<ul>
~~-<li><a href="/articles/kyphoscoliosis">kyphoscoliosis</a></li>~~
~~-<li>~~
~~-<a href="/articles/vertebral-scalloping">vertebral scalloping</a>: can be associated with dural ectasia or neurofibromas</li>~~
~~-<li><a href="/articles/lateral-thoracic-meningocele-1">intrathoracic meningocele</a></li>~~
~~-<li><a href="/articles/dural-ectasia">dural ectasia</a></li>~~
~~-<li>hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina</li>~~
~~-<li>transverse process spindling</li>~~
~~-<li><a href="/articles/enlarged-neural-foramina">enlarged neural foramina</a></li>~~
~~-<li>~~
~~-<a href="/articles/ribbon-ribs-deformity">ribbon rib deformity</a>, <a href="/articles/rib-notching">rib notching</a>, and dysplasia</li>~~
~~-<li>extrinsic pressure may result in deficient bone formation that could be expressed as cortical thinning, erosive defects, sclerosis, and periosteal proliferation</li>~~
~~-<li>~~
~~-<a href="/articles/congenital-pseudoarthrosis-of-the-tibia">tibial pseudoarthrosis</a> or, less commonly, ulnar pseudoarthrosis</li>~~
~~-<li>bony dysplasias: especially affecting tibia</li>~~
~~-<li>severe bowing: both lateral and anterior</li>~~
~~-<li>multiple <a href="/articles/non-ossifying-fibroma-1">non-ossifying fibromas</a>: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins</li>~~
~~-<li><a href="/articles/hemihyperplasia">limb hemihypertrophy</a></li>~~
~~-<li><a href="/articles/atrophic-thinned-absent-fibulas">atrophic thinned / absent fibulas </a></li>~~
~~-<li>lambdoid suture defect: radiolucency present near the lambdoidal suture</li>~~
~~-<li>~~
~~-<a href="/articles/localised-gigantism">localised gigantism</a> </li>~~
+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% 1.For a general discussion of the underlying condition, please refer to the article on <a href="/articles/neurofibromatosis-type-1">neurofibromatosis type 1</a>. <h4>Clinical presentation</h4>Mass effect and pressure-induced changes caused by skin and soft tissue enlargement associated with <a href="/articles/plexiform-neurofibroma">plexiform neurofibromas</a> may cause deformities on the underlying bone.Spinal deformities are common in patients with NF1, occurring in up to 50%. Scoliosis is most common and can occur in 21% of NF1 patients 1.Bowing and pseudarthrosis are related to mesodermal dysplasia and can occur in a variety of bones, but commonly affects the tibia. <h5>Neoplasms</h5>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>.<h4>Radiographic features</h4>The imaging spectrum includes<ul>
+<li><a href="/articles/kyphoscoliosis">kyphoscoliosis</a></li>
+<li><a href="/articles/vertebral-scalloping">vertebral scalloping</a>: can be associated with dural ectasia or neurofibromas</li>
+<li><a href="/articles/lateral-thoracic-meningocele-1">intrathoracic meningocele</a></li>
+<li><a href="/articles/dural-ectasia">dural ectasia</a></li>
+<li>hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina</li>
+<li>transverse process spindling</li>
+<li><a href="/articles/enlarged-neural-foramina">enlarged neural foramina</a></li>
+<li><a href="/articles/ribbon-ribs-deformity">ribbon rib deformity</a>, <a href="/articles/rib-notching">rib notching</a>, and dysplasia</li>
+<li>extrinsic pressure may result in deficient bone formation that could be expressed as cortical thinning, erosive defects, sclerosis, and periosteal proliferation</li>
+<li><a href="/articles/congenital-pseudoarthrosis-of-the-tibia">tibial pseudoarthrosis</a> or, less commonly, ulnar pseudoarthrosis</li>
+<li>bony dysplasias: especially affecting tibia</li>
+<li>severe bowing: both lateral and anterior</li>
+<li>multiple <a href="/articles/non-ossifying-fibroma-1">non-ossifying fibromas</a>: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins</li>
+<li><a href="/articles/hemihyperplasia">limb hemihypertrophy</a></li>
+<li><a href="/articles/atrophic-thinned-absent-fibulas">atrophic thinned / absent fibulas</a></li>
+<li>lambdoid suture defect: radiolucency present near the lambdoidal suture</li>
+<li><a href="/articles/localised-gigantism">localised gigantism</a> </li>

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>
3. Wolfgang Dähnert. Radiology Review Manual. (2011) ISBN: 9781609139438 - <a href="http://books.google.com/books?vid=ISBN9781609139438">Google Books</a>
1. Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. AJR Am J Roentgenol. 2012;199 (1): W99-106. <a href="http://dx.doi.org/10.2214/AJR.11.7811">doi:10.2214/AJR.11.7811</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/22733937">Pubmed citation</a>
2. Fortman BJ, Kuszyk BS, Urban BA et-al. Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21 (3): 601-12. <a href="http://radiographics.rsna.org/content/21/3/601.full">Radiographics (full text)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/11353109">Pubmed citation</a><div class="ref_v2"></div>
3. Wolfgang Dähnert. Radiology Review Manual. (2011) <a href="https://books.google.co.uk/books?vid=ISBN9781609139438">ISBN: 9781609139438</a>

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Neurofibromatosis type 1 (musculoskeletal manifestations)

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