Neurofibromatosis type 1: breast manifestations

Dr Jeremy Jones and Radswiki et al.

Breast manifestations of Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, it is characterised by multiple subcutaneous neurofibromas affecting the breast. 

For a general discussion of the underlying condition, please refer to the article on neurofibromatosis type 1

Radiographic features


Mammographically they appear as well-defined benign appearing masses, often multiple. They are classically peri-areolar in location. Portions of the outline may be rimmed by air density reflecting their superficial nature (giving a halo). These multiple skin lesions can mimic and partially obscure breast lesions on mammogram.

Breast ultrasound

Sonographically neurofibromas are usually seen as well-defined hypoechoic masses with posterior acoustic enhancement located in the subcutaneous tissue with features somewhat similar to a fibroadenoma.

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