Multiple Skin Adnexal Tumours with Possible Syndromic Association

Brooke-Spiegler syndrome (BSS), multiple familial trichoepithelioma (MFT1) and familial cylindromatosis (FC) are autosomal dominant tumor syndromes that predispose individuals to multiple benign and malignant tumors, morphologically related to the adnexal structures of the skin. As allelic conditions caused by mutations in the CYLD gene, they are considered variants of a spectrum termed CYLD cutaneous syndrome (CCS). Patients commonly present with multiple adnexal tumors, such as cylindromas, trichoepitheliomas and spiradenomas, gradually increasing in size and number. Here, we report the case of a woman in her fifties who presented with an infected wound and multiple enlarging skin tumors over the face, scalp and upper back. Histopathological studies confirmed multiple skin adnexal tumors with features of eccrine spiradenoma, foci of trichoepithelioma and cylindroma areas. The patient underwent excision of the lesions with skin grafts and, given the possibility of syndromic association, was advised CYLD gene testing.