Juvenile Papillomatosis (Swiss-Cheese Disease) of Breast in an Adult Male With Sequential Diagnoses of Ipsilateral Intraductal, Invasive, and Widely Metastatic Carcinoma: A Case Report and Review of the Disease in Males

Abstract

Juvenile papillomatosis of the breast (JPB, also known as Swiss cheese disease) is a rare ailment that typically afflicts young females, and presents as a mass-forming lesion. The lesional mass usually comprises multiple cysts and duct stasis, amid a variety of proliferative and nonproliferative epithelial changes. The proliferative changes include papillary hyperplasia, florid hyperplasia, and papillary apocrine hyperplasia. Concurrent carcinoma (either in situ or invasive) is present in approximately 10% of cases at presentation, and subsequent carcinoma (either in situ or invasive) is diagnosed in about 10% of patients. About 20% of patients have a strong family history of breast carcinoma. A total of 10 cases of JPB have been previously reported in males, both children and adults, only one of which, in a 33-year-old, was associated with invasive carcinoma. Here, another case of JPB in a 45-year-old male-one with subsequent sequential diagnoses of ipsilateral intraductal carcinoma, invasive carcinoma, and widely metastatic carcinoma over the course of 15 years-is reported.

Mammary juvenile papillomatosis (“Swiss cheese” disease): Study of 121 cases reiterates need for long-term follow-up

“…Based on the results of our study, and review of the cumulative literature, we conclude that in patients with JP (a) unless the clinically evident mass is completely excised the disease can recur, (b) invasive and in situ carcinoma can be infrequently concurrent at presentation, and invasive carcinoma can rarely occur subsequently, (c) carcinomas that occur either concurrently or more commonly subsequently are usually ipsilateral and seem to be spatially related to JP—a finding that suggests that JP is precursor lesion, (d) family history of breast carcinoma (in first‐ and second‐degree relatives) can be elicited in a minority of cases, (e) since the risk of subsequent carcinoma appears to be equivalent to that in women with proliferative disease without atypia, long‐term clinical follow‐up utilizing a screening protocol (including magnetic resonance imaging, MRI)—individually tailored to clinicopathological circumstances (including age) should be ensured. The association of JP with Proteus syndrome and Cowden disease, both of which have been linked to PTEN (phosphatase and tensin homolog) mutations, deserves study.…”

“…In a mean follow‐up of 113 months (range: 1‐212), available in 113 cases, 2 (1.6%) ipsilateral invasive ductal carcinoma (including one in a male who had been first diagnosed to have unilateral JP at the age of a 45) were diagnosed. The male patient with invasive carcinoma sequentially developed ipsilateral DCIS, invasive carcinoma, and widely metastatic carcinoma over a 10‐year period . The other case of invasive ductal carcinoma (in the ipsilateral breast, without axillary nodal involvement or metastases) occurred 14 months after initial diagnosis at the age of 48 in a woman who had JP concurrent with LCIS at initial diagnosis.…”