Gynaecological cylindroma in association with CYLD gene mutation

Abstract

Cylindroma is a benign adnexal tumour that occurs as a solitary pink–red coloured nodule and is usually found on the scalp or neck. There have been few cases reported of these lesions being found on the genitalia. They can be found in single or in multiple form, with the latter usually inherited in an autosomal dominant pattern. CYLD lysine 63 deubiquitinase (CYLD) cutaneous syndrome, also known as Brooke-Spiegler syndrome, is a genetic condition characterized by the growth of multiple benign adnexal skin tumours. The most common tumours are cylindromas, spiradenomas and trichoepitheliomas. The cause of this syndrome can be attributed to mutations in the CYLD tumour suppressor gene. If both copies of this gene are mutated, the cell undergoes uncontrolled cell proliferation and division resulting in the formation of a tumour. Here, we present an unusual case of a female patient presenting with a large cylindroma over the mons pubis.