First AD

Second AD

A 47-year-old female presents for her annual screening mammogram. The patient has a history of having “multiple moles,” and is otherwise healthy.

Dysplastic nevus syndrome/familial melanoma syndrome

CC and MLO mammogram images demonstrate multiple rounded masses bilaterally which correspond to the patient’s “moles” (**marked with the circular markers).

Photographs of the anterior and posterior thorax confirm the skin lesions which were found to be subcutaneous neurofibromas.

Neurofibromatosis is a neurocutaneous disorder (phakomatosis), with Type 1 being the most common. The abnormality on chromosome 17 results in a defect of the NF1 gene product neurofibromin, thought to be a tumor suppressor and involved in myelination. This results in an increased risk of developing benign and malignant masses.

Diagnosis of NF1 requires >2 of the following 7:

Six or more cafÃ©-au-lait spots or hyperpigmented macules ≥5 mm in diameter in children younger than 10 years and to 15 mm in adults

Two or more typical neurofibromas or one plexiform neurofibroma

Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist

Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis

First-degree relative (eg, mother, father, sister, brother) with NF1

Albright AL, Adelson PD, Pollack IF. Principles and practice of pediatric neurosurgery. Thieme Medical Pub. (2007) ISBN:1588903958..

Aoki S, Barkovich AJ, Nishimura K et-al. Neurofibromatosis types 1 and 2: cranial MR findings. Radiology. 1989;172 (2): 527-34.

Image IQ: 47-year-old with Multiple Moles, Screening Mammogram

Matthew Minn, MD

Erini Makariou, MD