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% 1.
For a general discussion of the underlying condition, please refer to the article on neurofibromatosis type 1.
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 patients 1.
Bowing and pseudarthrosis are related to mesodermal dysplasia and can occur in a variety of bones, but commonly affects the tibia.
In result of the inactivation of a tumor suppressor gene, NF1 is also associated with increased incidence of numerous tumors, such as rhabdomyosarcoma.
The imaging spectrum includes
vertebral scalloping: can be associated with dural ectasia or neurofibromas
hypoplastic posterior elements: thinning of the pedicles, transverse processes, and lamina
transverse process spindling
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
lambdoid suture defect: radiolucency present near the lambdoidal suture
- 1. Patel N & Stacy G. Musculoskeletal Manifestations of Neurofibromatosis Type 1. AJR Am J Roentgenol. 2012;199(1):W99-106. doi:10.2214/AJR.11.7811 - Pubmed
- 2. Fortman B, Kuszyk B, Urban B, Fishman E. Neurofibromatosis Type 1: A Diagnostic Mimicker at CT. Radiographics. 2001;21(3):601-12. doi:10.1148/radiographics.21.3.g01ma05601 - Pubmed
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