Abstract
Brooke-Spiegler syndrome (BRSS) is characterized by the development of multiple adnexal tumors including trichoepitheliomas, cylindromas, and spiradenomas. Mutations in the tumor suppressor gene CYLD lead to downregulation of the nuclear factor kappa B (NF-kB) signaling pathway resulting in subsequent tumorigenesis. A 49-year-old female with a history of hidradenitis suppurativa presented with numerous coalescing flesh-colored papules and nodules on her central face, bilateral helices, and bilateral scaphoid fossae on physical exam. Excisional biopsies of three 1-2cm lesions on the right tragus, left tragus, and right posterior auricular areas were performed. Histopathological examination revealed trichoepitheliomas. The patient subsequently underwent a biopsy of a lesion on her left chin which was found to be an epidermal inclusion cyst. In addition, there were basaloid nests of cells in the periphery of the epidermal inclusion cyst circumferentially. A CD10 stain was negative in the basaloid cells but demonstrated strong positivity in the stroma. Trichoepithelioma associated with epidermal cyst is an exceedingly rare presentation of BRSS with unclear pathophysiology. Other unusual presentations of this syndrome include salivary gland tumors with potential for malignant transformation. Careful oral examinations should be performed in patients with BRSS to prevent facial nerve damage from parotid tumor invasion. However, most tumors are benign, and traditional management involves elective excision of bothersome lesions.
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