Bilateral Neurofibromas of the Nipple-Areolar Complex: A Case Report and Approach to Diagnosis

Abstract

Neurofibromatosis type 1 is an autosomal dominant condition which can manifest as multiple neurofibromas within subcutaneous tissue. Neurofibromas of the breast are rare and most often encountered on the nipple-areolar complexes. A 33-year-old woman presented with large, bilateral, fleshy, skin tags of the nipple-areolar complexes. She underwent bilateral diagnostic excision of the lesions and macroscopically, both nipple specimens displaying polypoid lesions. Histological examination showed bilateral neurofibromas comprising skin with underlying dermal proliferation of bland spindle shaped cells with wavy nuclei. Immunohistochemistry confirmed the spindle cell proliferation to be neural in origin; positive for S100 and neurofilament and negative for cytokeratins. This was associated with florid smooth muscle proliferation. This case demonstrates a rare presentation of nipple-areolar neurofibroma occurring within the skin and nipple parenchyma. Our report considers the differential diagnoses of spindle cell proliferation within the dermis and subcutis of the breast and also other deeper breast spindle cell lesions that may involve the nipple. It aims to provide an approach to diagnosing these lesions examining the literature surrounding breast neurofibromas.

Imaging appearance of Isolated diffuse neurofibroma of nipple areolar area: a case report

“…Clinically, these tumors often present as a superficial cutaneous or subcutaneous lesion, but may occur in all parts of the body, imparting a sensation of “a bag of worms” on palpation. These tumors are usually diagnosed in childhood and are associated with neurofibromatosis 1 (NF1) in about 30% [ 5 ].…”

“…The association of neurofibromas of the breast and a breast cancer especially in patient with NF1 is possible. The finding that both the NF1 gene and a breast cancer predisposition gene (BRCA1) are located in close proximity on chromosome 17q makes the association of these two conditions intriguing in addition presence of multiple neurofibromas of the breast, which can develop both on the surface of the skin and subcutaneously, may obscure a breast mass at palpation, leading thus to more rigorous clinic and mammographic screening of the breast during adulthood to determine the presence or absence of malignancies [ 5 ].…”

Neurofibromatosis Type 1 Lately Revealed by Solitary Nipple-Areola Neurofibromas

“…When surgical excision is performed histological diagnosis can be made. Typical features include dermal proliferation of randomly oriented thin spindled cells corresponding to Schwann cells, perineurial-like cells or fibroblastic cells, with few occasional lymphocytes or masts cells and a diffuse positive PS100 staining [5].…”

Neurofibroma of breast- A rare case report

“…Neurofibromas are rare and benign tumours of peripheral nerve sheath which can be a common manifestation of neurofibromatosis type 1(NF1). 1 They usually consist of Schwann cells, collagen fibers and fibroblasts. They mostly occur on the trunk and limbs, usually occurring in almost 95% of individuals with NF1.…”