A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome.

Abstract

Conflict of interest: the authors declare that they have no conflicts of interest. Brooke–Spiegler syndrome (BSS) is an autosomal dominant disorder caused by CYLD gene mutations, and characterized by multiple benign adnexal cutaneous neoplasms. Coexisting malignancies are uncommon, and basal cell carcinomas (BCCs) have rarely been described in the BSS phenotype.1 2 We report a novel CYLD germline missense mutation in a three‐generation family with BSS. The proband had a heterogeneous array of adnexal tumours with additional infundibular follicular cysts and steatocystomas, which have not been previously described in patients with BSS. The proband also had the largest number of BCCs ever reported in a single patient with BSS. A 57‐year‐old white woman presented with multiple, discrete, and confluent nodules located on her scalp, ears and central face, as well as painful subcutaneous nodules on her trunk and limbs (Fig. 1). Histopathological examination revealed cylindromas, trichoblastomas (TBs), trichoepitheliomas (TEs) and spiradenomas, and some of the lesions transitioned into areas of BCC, with a total of eight nodular ulcerating BCCs (recurrent and new) identified on her nose and right canthus (Fig. 1b,c and Fig. 2). Interestingly, infundibular follicular cysts and steatocystomas were also found on the patient's extremities.