Brooke‐Spiegler Syndrome Associated with Cylindroma, Trichoepithelioma, Spiradenoma, and Syringoma

Abstract

Brooke-Spiegler syndrome is a rare, autosomally dominant disease characterized by the development of multiple cylindromas, trichoepitheliomas, and occasional spiradenomas. We report herein a case of Brooke-Spiegler syndrome in a 55-year-old woman associated with multiple cylindromas, spiradenomas, trichoepitheliomas, and syringomas that developed on her face. Her 52-year-old sister also suffered from multiple trichoepitheliomas. Although there is variable clinical and histological expression in Brooke-Spiegler syndrome, all of the tumors encountered in our case were related to folliculosebaceous-apocrine units.

Expression of Stem-Cell Markers (Cytokeratin 15 and Nestin) in Primary Adnexal Neoplasms-Clues to Etiopathogenesis

“…Spiradenoma and cylindroma are closely related to one another 25 ; and both neoplasms have a relationship to trichoepithelioma and trichoblastoma, suggesting an apocrine origin. 26,27 Contrary to findings by Misago and Narisawa, 17 however, we did not observe CK15 expression in any of our 4 cases of syringocystadenoma papilliferum. This is not entirely inconsistent with prior published results by Mammino and Vidmar 28 which indicate that although syringocystadenoma papilliferum is generally classified within the apocrine group, conflicting results from electron microscopy, enzyme histochemistry, and immunohistochemistry variably offer support for both eccrine and apocrine differentiation.…”

Phenotype–genotype correlations for clinical variants caused by CYLD mutations

“…Typically, they appear as multiple turban-like protrusions on the scalp, which are also referred as turban tumors [Uede et al, 2004]. Cylindromas are histologically characterized by dermal nodules of epithelial cells: large cells with abundant cytoplasm occur at the center of the tumors, where as small basaloid cells occur at the periphery.…”

“…Trichoepitheliomas are small benign skin-colored tumors and are typically present at the center of the face, mostly around the nose, periorbitally and in the nasolabial folds [Uede et al, 2004]. Histologically, trichoepitheliomas are characterized by basaloid cells with peripheral palisades that are arranged in nests or cribriform patterns surrounded by dense stroma and fibroblasts .…”

“…Spiradenomas are purple benign nodular tumors, which are usually located on the trunk or limbs [Uede et al, 2004]. Histologically, spiradenomas are composed of large tumor nests comprising two types of epithelial cells .…”

Cutaneous Sebaceous Neoplasms With a Focal Glandular Pattern (Seboapocrine Lesions): A Clinicopathological Study of Three Cases

“…12,41 Evidence supporting this issue is provided by the reported cases of spiradenoma associated with areas of sebaceous and/or follicular differentiation in adnexal lesions or simultaneous occurrence of spiradenoma and other follicular, sebaceous, or apocrine neoplasms in patients with Brooke-Spiegler syndrome, or folliculosebaceous-apocrine tumors manifesting spiradenomatous areas. 12,40,[42][43][44][45][46][47][48][49][50][51] The glandular patterns described above should be distinguished from a pseudoglandular pattern, in which the formation of structures resembling glands is caused by the loss of integrity of solid epithelial structures attributable to cell necrosis, acantholysis, or myxoid degeneration. Holocrine secretion may sometimes impart a pseudoglandular appearance to a sebaceous tumor.…”