부산대학교 도서관

The presence of a spectrum of follicular differentiated tumors ranging from benign trichoepitheliomas to infundibular BCC, and eventually nodular BCCs, suggests that some trichoepitheliomas underwent the malignant transformation into BCCs. Dear Editor, CYLD cutaneous syndrome (CCS) is a rare autosomal dominant genetic syndrome characterized by multiple tumor formation of the skin appendages in the head and neck region because of a heritable heterozygous pathogenic variant (PV) in the I CYLD i gene.1 Multiple familial trichoepithelioma (MFT) is a clinical phenotype of CSS where patients typically present with numerous trichoepitheliomas on the center of the face, especially the nasolabial folds.2 Trichoepitheliomas share clinical and histological similarities with infundibulocystic variants of basal cell carcinomas (BCC) and therefore pose a diagnostic challenge in some patients.2,3 Further complicating this, the medical literature has described the malignant transformation of benign trichoepitheliomas to malignant BCCs.1 A Caucasian gentleman in his 40s had several punch biopsies on the centrofacial region which demonstrated basaloid tumors with features of trichoepithelioma and focal areas suggestive of transformation to basal cell carcinoma of infundibulocystic type (Fig. [Extracted from the article]