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.
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.
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.
- 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
- Gomez-Lopez-Hernandez syndrome
- 1. Eurorad teaching files : Case 6369
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