Case 6369
Mammographic Appearances of Neurofibromatosis
Author(s)
Dr O McDonnell
Patient
female, 51 year(s)
Clinical Summary
A 51 year old female with neurofibromatosis type 1 attended for a screening mammogram.
Clinical History and Imaging Procedures
Numerous masses overly both breasts. Portions of the lesions are partially defined by air, and the margins are lost at the attachment to the skin.
Discussion
Neurofibromatosis is a genetic multisystemic neurocutaneous disorder involving neuroectodermal and mesenchymal derivatives. The most common form is neurofibromatosis type 1. Patients with neurofibromatosis type I or von Recklinghausen disease develop neurofibromas in the subcutaneous tissues, including the breast. 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. The multiple skin lesions can mimick and partially obscure breast lesions on mammogram.The ultrasound appearance is of a well-defined hypoechoic mass with posterior acoustic enhancement located in the subcutaneous tissue similar to a fibroadenoma. These tumours are well managed by local excision if so desired for cosmesis.
Final Diagnosis
Skin nodules in a patient with neurofibromatosis type 1
MeSH
-
Mammary Glands, Human
[A01.236.249]
Glandular tissue in the BREAST of human that is under the influence of hormones such as ESTROGENS; PROGESTINS; and PROLACTIN. In WOMEN, after PARTURITION, the mammary glands secrete milk (MILK, HUMAN) for the nourishment of the young. -
Neurofibromatoses
[C10.562.600]
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
References
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Citation
Dr O McDonnell (2008, Jul 28).
Mammographic Appearances of Neurofibromatosis, {Online}.
URL: http://www.eurorad.org/case.php?id=6369
