Pictorial Essay

Neurofibromatosis revisited: A pictorial review

Nausheen Khan, Irma van de Werke, Farzanah Ismail
South African Journal of Radiology | Vol 14, No 1 | a440 | DOI: https://doi.org/10.4102/sajr.v14i1.440 | © 2010 Nausheen Khan, Irma van de Werke, Farzanah Ismail | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2010 | Published: 11 March 2010

About the author(s)

Nausheen Khan, University of Pretoria
Irma van de Werke, University of Pretoria
Farzanah Ismail, University of Pretoria

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Abstract

Neurofibromatosis (or von Recklinghausen disease) is a hereditary condition due to mesodermal and neuroectodermal dysplasia, eponymously named after the researcher who reported it in 1882. The disorder is transmitted as an autosomal dominant condition, but 50% of cases arise as spontaneous mutations. The incidence falls within the range 1:2 000 - 1:4 000, and has no gender bias. We present a series of images produced by different modalities that show lesions and pathologies that are characteristic of the disease.

Keywords

Phakomaoses, Radiographs, MRI, Imaging

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