First AD

Second AD

44-year-old woman presents for screening mammogram.

Multiple non-calcified rounded cutaneous and subcutaneous lesions are seen bilaterally on these CC and MLO mammographic images. This patient had a history of neurofibromatosis type 1 and this is a classic appearance of neurofibromas on mammogram. Neurofibromatosis type 1 is an autosomal dominant disease characterized by two or more of the following diagnostic criteria: cafe au lait spots, neurofibromas, axillary or inguinal freckling, lisch nodules, optic gliomas, characteristic bony lesions, first degree relative with the disease.

Recent studies have shown a possible increased risk of invasive breast cancer in neurofibromatosis patients although current guidelines do not place these patients in a high-risk category.

1. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 

2. Cao MM, Hoyt AC, Bassett LW. Mammographic signs of systemic disease. 

3. Madanikia SA, Bergner A, Ye X, Blakeley JO. Increased risk of breast cancer in women with NF1. 

4. Wang X, Levin AM, Smolinski SE, Vigneau FD, Levin NK, Tainsky MA. Breast cancer and other neoplasms in women with neurofibromatosis type 1: a retrospective review of cases in the Detroit metropolitan area. 

Image IQ: 44-year-old Woman, Screening Mammogram