Neurofibromatosis type 1 (breast manifestations)

Breast manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, it is characterized 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.