A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke‐Spiegler syndrome

Abstract

Brooke-Spiegler syndrome is characterized by the development of multiple trichoepitheliomas and cylindromas. In addition, multiple spiradenomas have been observed in this autosomal-dominant inherited disease. We report a 53-year-old woman with multiple cylindromas on the head and neck and multiple trichoepitheliomas on the face. Additionally, she had had since birth a plaque on the right side of her neck containing two nodules with features of both cylindroma and trichoepithelioma. Immunohistochemical investigations revealed in the basaloid cells of trichoepithelioma an expression of CK 5/6, CK 14, CK 17, CK 19 and vimentin. The cells of the cylindroma lacked vimentin but expressed additionally CK 7, CK 8 and CK 18. The occurrence of cylindroma and trichoepithelioma in a single nevoid plaque from a patient with Brooke-Spiegler syndrome implies an alteration in the stem cells of the folliculosebaceous-apocrine unit and could be characteristic of the disorder.

Milia: A review and classification

“…72,73 Organoid nevi and malignant transformation of benign adnexal tumors have been reported. [74][75][76] Patients may develop salivary gland adenomas and adenocarcinomas. 77,78 A small subset (Rasmussen syndrome) develop milia.…”

Brooke-Spiegler Syndrome

“…12,27,28 These findings reflect the kinship of the elements of the folliculosebaceousapocrine unit. 12,27,28 These findings reflect the kinship of the elements of the folliculosebaceousapocrine unit.…”

“…[21][22][23] Mutations in CYLD have recently been suggested to account for the phenotypic diversity; genetic heterogeneity has not been established convincingly. 12,27,28 Recently, we had the opportunity to study a patient with Brooke-Spiegler syndrome in whom 11 lesions had been removed for various reasons over a period of 3 years. 26 A concurrence of several tumors with apocrine and follicular differentiation in the same biopsy specimen has previously been reported in Brooke-Spiegler syndrome patients.…”

Brooke–Spiegler syndrome – report of four families: treatment with CO2 laser

“…Trichoepitheliomas are generally small, round, hard, firm tumoral lesions, with a smooth, bright, white–yellow or slightly pinkish colored surface 3,7–9 . They are generally found on the face (cheeks, nasolabial folds, nose, and eyelids) and less commonly on the upper part of the trunk or upper limbs.…”

“…Brooke–Spiegler syndrome is a rare, autosomal‐dominant inherited disease characterized by the association of multiple trichoepitheliomas and cylindromas. It may be associated with other tumors, eccrine spiradenoma being the most frequently described 1–6 …”