Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome

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.