Cylindroma is a rare skin tumour that is inherited in several skin-tumour syndromes caused by germline mutations in the tumour suppressor gene, CYLD. In this Review, we provide insight into the clinical features of patients who develop multiple cylindromas and other related tumours. The CYLD protein is also dysfunctional in various sporadic cancers and we discuss how such dysfunction relates to the role of CYLD in regulating key cellular pathways. Clinical management of patients with germline CYLD mutations is challenging and we discuss genetic counselling and surgical interventions. Finally, we discuss how the study of these rare syndromes might provide insights into understanding more common diseases.
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