Neurofibromatosis of the nipple-areolar area: a case series

Abstract

Introduction: Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals. One of the most noticeable characteristics of the disease is the development of neurofibromas.

Case presentation: A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department. Nine patients (3.45%, 95% confidence limits 1.22 to 5.68) had neurofibromas of the breast. One of these nine patients presented with an extensive congenital plexiform neurofibroma in the outer quadrants of her right breast, extending to the nipple-areolar complex. Meanwhile, three patients had more than one neurofibroma on the nipple-areolar complexes. Three patients had a family history of neurofibroma. Over the years 1994 to 2004, the cutaneous lesions were not associated with any malignancies. Presenting symptoms were related to conditions such as increasing size of the mass, and associated loss of function and pain.

Conclusions: This study suggests that the changes are limited to particular subgroups. That neurofibromatosis is more prevalent in women (7 women and 2 men) suggests that being female could be a susceptibility factor for the development of neurofibromas of the nipple-areolar complexes. There are few reports in the literature describing breast carcinomas in association with von Recklinghausen disease. It has been speculated that the presence of multiple neurofibromas of the breast may obscure a breast mass at palpation, leading to a delay in clinical detection. We suggest that patients with neurofibromas of the breast have more rigorous clinical and mammographic screening of the breast during adulthood to determine the presence or absence of malignancies. The finding that both the neurofibromatosis type 1 gene and a breast cancer predisposition gene are located in close proximity on chromosome 17q makes the association of these two conditions intriguing.

Figure 1

Case 4. The lesions are large and pedunculated protruding 2 cm and 6 cm, respectively, from the nipple-areolar complexes.

Figure 2

Case 6. The lesions deforming both nipples and areolar regions.

Figure 3

Case 9. The extensive congenital plexiform neurofibroma involved the outer quadrants of her right breast and extends to the nipple-areolar complex and to the homolateral axillary region and arm.

Figure 4

Case 4. The neurofibroma is composed of widely spaced cells with elongated nuclei and scant cytoplasm and embedded in mucopolysaccaride-rich, variably collagenous matrix (hematoxylin and eosin staining, original magnification (A) ×125, and (B) ×250).

Figure 5

Case 9. The cell formations resemble Wagner-Meissner corpuscles. These are spherical and aggregated (haematoxylin and eosin staining; original magnification ×640).