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Case ReportsAbstract
Brooke-Spiegler syndrome (BSS) is a rare genetic disorder characterized by the development of multiple adnexal skin tumors commonly affecting the head and neck. BSS is comprised of trichoepitheliomas, cylindromas, and spiradenomas. These lesions temporally emerge in between adolescence or early adulthood and will go on to increase in size and number over time. They are usually benign, but malignant transformation is known to occur. Trichoepithelioma often presents as multiple, small, firm, flesh-colored nodules with a symmetrical distribution on the face and trunk. On histology, these lesions display basaloid cell islands and horn cysts without the mitotic activity or retraction artifacts seen in basal cell carcinoma. We report a rare case of a 66-year-old woman with a history of BSS who presented with a wrinkled, pale-yellow skin lesion on her shoulder. Microscopic examination demonstrated a basaloid proliferation with fibrous stroma, seen in typical trichoepithelioma, transitioning into a predominant adenoid pattern with mucoid stroma. Immunohistochemistry stains revealed focal and patterned CK7 positivity, along with strong p63 expression. CK7 was positive in classic trichoepithelioma component with 4+ staining of luminal cells and negative in more adenoid appearing areas. P63 was positive in both components of the lesion. Negative S100 and CEA staining were not supportive of eccrine differentiation. SOX10 was also negative. Overall, the findings represented a histologic variant of trichoepithelioma. This case highlights the importance of accurate histopathologic diagnosis in patients with BSS and expands the spectrum of potential presentations to include older adults and less common sites of the lesion.