Cylindroma of the Breast of Skin Adnexal Type

Abstract

Four cases of solitary cylindroma of the breast of skin adnexal type are described. The tumors were morphologically and immunophenotypically identical to their dermal counterparts. They arose in close proximity to the nipple, such as the retroareolar area of the breast and in intimate association with the lactiferous ducts, suggesting an origin from the latter structures. One case occurred in a woman with hereditary multiple cylindromatosis (Brooke-Spiegler syndrome). This is the second reported case of this hereditary syndrome with extracutaneous manifestations and the first case in which the breast is involved.

Breast Neoplasms with Dermal Analogue Differentiation (Mammary Cylindroma): Report of 3 Cases and a Proposal for a New Terminology

“…Dermal cylindroma is a well-recognised benign eccrine skin tumour. Tumours with similar morphology have been identified within the breast (table 1) [1,6,7,8,9], kidney [10], lung [5] and salivary glands [11]. All these organs share ductal and basal/myoepithelial structures supporting the proposal that cylindroma results from an aberration of ductal differentiation [9].…”

“…Both lesions have nodular and trabecular growth patterns with basement membrane-like material around the islands of tumour cells. Both can have an irregular edge, but previous reports of mammary cylindroma have used the term ‘pseudo-infiltration' [1,6,9]. Furthermore, the presence of cells demonstrating the immune profile of myoepithelial/basaloid cells admixed with cells exhibiting a luminal immune profile and the presence of tubular/ductal structures are seen within both tumours.…”

“…Multiple cylindromas are seen in hereditary multiple cylindromatosis (Brooke-Spiegler syndrome), an autosomal dominant condition which is characterised by a germline mutation within the tumour suppressor gene CYLD1 [13,14]. Two out of the 14 cases of mammary cylindroma we reviewed occurred in patients known to suffer from the Brooke-Spiegler syndrome (table 1) [9,15]. The 3 patients in the present study had no family or past medical history of skin tumours.…”

Trichoblastic Fibroma of the Skin Mimicking Primary or Secondary Breast Cancer

“…This type of tumor sometimes can be difficult to diagnose without histology, because of wide variety of clinical presentations [1][2][3][4].Cases of apocrine poroma, syringomatous adenoma of the nipple, cylindroma, hidradenoma, syringocystadenoma papilliferum, pilomatrixoma have been reported [1,2,[4][5][6][7][8][9][10][11]. To the best of our knowledge, only one case of trichoblastic tumor in the skin of the breast has been reported up to now [12].…”

Report of Three Novel Germline <b><i>CYLD</i></b> Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation

“…The tumors are mostly localized in the head and neck area and may undergo a malignant transformation in 5-10% of cases [1,2,3,4] . In addition, BSS patients may very rarely develop tumors of the major (parotid) and minor salivary glands, and exceptionally in the breast [5,6,7]. …”