Neurofibromatosis type 1 (musculoskeletal manifestations)

Last revised by Calum Worsley on 18 Oct 2022

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

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 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.

Radiographic features

The imaging spectrum includes

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