Brooke-Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression

Brooke-Spiegler综合征同时发生圆柱瘤、螺旋腺瘤和毛发上皮瘤:一例罕见的恶性进展病例

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Abstract

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by multiple adnexal tumors. Malignant transformation is uncommon, and the simultaneous occurrence of cylindroma, spiradenoma, and trichoepithelioma with progression to basal cell carcinoma (BCC) has rarely been documented. A 73-year-old woman presented with multiple, painful nodules on the scalp, face, and periocular region that had been progressively increasing since puberty. She had a positive family history of similar lesions and a history of prior surgeries for recurrent tumors. Examination revealed multiple firm, erythematous nodules with post-surgical scars. Histopathological analysis confirmed the coexistence of cylindroma, spiradenoma, and trichoepithelioma, with malignant transformation to BCC within one lesion. All accessible tumors were surgically excised, with no adjuvant therapy. No recurrence was observed at previously excised sites during follow-up, but new lesions continued to develop in other areas. The disease caused significant cosmetic changes but no functional impairment. This case underscores the rare malignant transformation in BSS and emphasizes the need for lifelong dermatologic surveillance and early surgical intervention. Watchful follow-up is critical to reduce morbidity and prevent complications from aggressive tumor behavior.

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