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.
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.
In result of the inactivation of a tumour suppressor gene, NF1 is also associated with increased incidence of numerous tumours, such as rhabdomyosarcoma.
The imaging spectrum includes
- 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 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 NOF: metaphysis of long bones well-defined, expansile lucent lesions with sclerotic margins
- limb hemihypertrophy
- neurofibromatosis type 1 (NF1) (von Recklinghausen disease)
- neurofibromatosis type 2 (NF2) (mnemonic)
- tuberous sclerosis (Bourneville-Pringle disease)
- ataxia telangiectasia
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- von Hippel-Lindau disease (retinocerebellar angiomatosis)
- incontinentia pigmenti (Bloch-Sulzberger syndrome)
- basal cell naevus syndrome (Gorlin-Goltz syndrome)
- Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
- encephalocraniocutaneous lipomatosis
- hypomelanosis of Ito
- Nijmegen breakage syndrome
- epidermal naevus syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy (Parry-Romberg syndrome)
- PHACE syndrome
- Cowden disease/COLD syndrome
- Gomez-Lopez-Hernandez syndrome
- 1. Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. AJR Am J Roentgenol. 2012;199 (1): W99-106. doi:10.2214/AJR.11.7811 - Pubmed citation
- 2. Fortman BJ, Kuszyk BS, Urban BA et-al. Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21 (3): 601-12. Radiographics (full text) - Pubmed citation