Leelamma Jayalakshmy P, Sundaram Sankar, Kandasamy Sangeetha
Department of Pathology, Government Medical College, Kottayam, Kerala, India.
Indian J Pathol Microbiol. 2019 Apr-Jun;62(2):313-318. doi: 10.4103/IJPM.IJPM_639_17.
Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the development of multiple cutaneous adnexal neoplasms namely cylindroma, trichoepithelioma and spiradenoma. The neoplasms associated with this syndrome are generally benign, but rarely they may undergo malignant transformation. A 63-year-old male presented with an ulcerated nodular lesion over glabella and multiple asymptomatic nodular lesions over face, scalp, chest and limbs. His father, grandfather and paternal cousins had history of similar lesions. Histopathological examination revealed trichoblastic carcinoma arising from trichoepithelioma over glabella and cylindroma on the chest. With these findings we arrived at a diagnosis of BSS with malignant transformation of trichoepithelioma. Trichoblastic carcinoma arising in trichoepithelioma in a patient with BSS is extremely rare with only a single case reported in literature.
布鲁克-施皮格勒综合征(BSS)是一种罕见的常染色体显性疾病,其特征是出现多种皮肤附属器肿瘤,即圆柱瘤、毛发上皮瘤和汗腺螺旋腺瘤。与该综合征相关的肿瘤通常为良性,但很少会发生恶性转化。一名63岁男性,在眉间出现一个溃疡结节性病变,面部、头皮、胸部和四肢有多个无症状结节性病变。他的父亲、祖父和父系表亲有类似病变史。组织病理学检查显示,眉间毛发上皮瘤发生毛发母细胞癌,胸部为圆柱瘤。根据这些发现,我们诊断为BSS伴毛发上皮瘤恶性转化。BSS患者毛发上皮瘤发生毛发母细胞癌极为罕见,文献中仅报道过1例。