Multiple Trichoepitheliomas and Basal Cell Carcinomas: A Novel Syndrome?

Abstract

We present a case of a sixty‐one‐year‐old Hispanic man with multiple familial trichoepithelioma, and basal cell carcinoma (BCC). Facial papules and nodules appeared around age five, increasing in number with age. Two BCCs were diagnosed and treated elsewhere, one of which prompted enucleation of the left eye and radiation therapy to that area at age fifty. Physical examination showed nodules (0.5 to 2.5 cm in size) on the scalp, face, ears, arms and the upper back. Biopsies from such tumors demonstrated three histological patterns: pure trichoepithelioma, trichoepithelioma with unequivocal BCC, and basaloid neoplasms of uncertain histogenesis. The trichoepithelioma shows the typical pattern: hair papillae, cystic, retiform basaloid cells and abundant stroma. The BCCs, which were often admixed with the trichoepitheliomas, were nodular type with peripheral palisading, stromal retraction, central confluent necrosis and adenoid features. The basaloid neoplasm of uncertain histogenesis showed cords and nests of basaloid cells without follicular differentiation. Immunohistochemically BCC’s areas showed more uniform and stronger staining for BCL‐2 than in trichoepithelioma though the latter showed papillary mesenchymal staining. No significant difference was observed for Ber‐EP4 and CD34. We conclude this may represent a unique malignant degeneration or a contiguous gene syndrome.