Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers

S.M. Brown, M. Arefi, R. Stones, P.S. Loo, S. Barnard, C. Bloxham, N. Stefanos, J.A.A. Langtry, S. Worthy, E. Calonje, A. Husain, N. Rajan

Germline mutations in the tumour suppressor gene CYLD are recognised to be associated with the development of multiple cutaneous cylindromas. We encountered such a patient who presented with breathlessness due to multiple pulmonary cylindromas. Patients with rare genetic diseases are poorly studied, so we searched for clinical and radiological features of multiple pulmonary cylindromas in a cohort of 16 patients with CYLD mutations. A retrospective case note review was carried out in a tertiary dermatogenetics clinic where CYLD mutation carriers are reviewed on an annual basis. In depth investigation was carried out for patients with pulmonary tumours. 4 patients had radiological imaging of their lungs, of which 2 had multiple pulmonary cylindromas that were confirmed histologically. Serial CT monitoring allowed for pre-emptive endobronchial laser ablation, preventing major airway obstruction and pulmonary collapse. Pulmonary cylindromas are an unrecognised, but infrequently symptomatic, aspect of the phenotype in these patients that can have implications for patient care. They should be considered in patients with a high tumour burden that present with respiratory symptoms, and where appropriate monitored with serial imaging. This article is protected by copyright. All rights reserved.