Neurofibromatosis type 1 (breast manifestations)
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.
- 1. Eurorad teaching files : Case 6369
- 2. Hillier JC, Moskovic E. The soft-tissue manifestations of neurofibromatosis type 1. Clin Radiol. 2005;60 (9): 960-7. doi:10.1016/j.crad.2005.02.008 - Pubmed citation
- 3. Porter GJ, Evans AJ, Lee AH et-al. Unusual benign breast lesions. Clin Radiol. 2006;61 (7): 562-9. doi:10.1016/j.crad.2006.02.008 - Pubmed citation
- 4. Gokalp G, Hakyemez B, Kizilkaya E et-al. Myxoid neurofibromas of the breast: mammographical, sonographical and MRI appearances. Br J Radiol. 2007;80 (958): e234-7. doi:10.1259/bjr/33539044 - Pubmed citation
- 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/COLD syndrome
- Gomez-Lopez-Hernandez syndrome