Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers4. (29th May 2018)

• Record Type: Journal Article
• Authors: Brown, S.M.; Arefi, M.; Stones, R.; Loo, P.S.; Barnard, S.; Bloxham, C.; Stefanos, N.; Langtry, J.A.A.; Worthy, S.; Calonje, E.; Husain, A.; Rajan, N.
• Is Part Of: British journal of dermatology. Volume 179:Number 3(2018)
• Page Start: 662
• Page End: 668
• Publication Date: 2018-05-29
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.16573
• Languages: English
• ISSNs: 0007-0963

Abstract

Summary: Background: Germline mutations in the tumour suppressor gene CYLD are recognized to be associated with the development of multiple cutaneous cylindromas. We encountered such a patient who presented with breathlessness because of multiple pulmonary cylindromas. Objectives: To search for clinical and radiological features of multiple pulmonary cylindromas in a cohort of 16 patients with CYLD mutations. Methods: 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. Results: Four patients had radiological imaging of their lungs, of which two had multiple pulmonary cylindromas that were confirmed histologically. Serial computed tomography monitoring allowed for pre‐emptive endobronchial laser ablation, preventing major airway obstruction and pulmonary collapse. Conclusions: Pulmonary cylindromas are an unrecognized, 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. Abstract : What's already known about this topic? Germline mutations in the tumour suppressor gene CYLD are recognized to be associated with the development of multiple cutaneous cylindromas, spiradenomas and trichoepitheliomas. Beyond the skin, salivary gland tumours are seen in less than approximately 5% of patients, but otherwise the tropism of this disease is recognized as exclusively cutaneous. What does this study add? We report multiple pulmonary cylindromas in two patients out of a series of 16 patients, a previously unreported aspect of this genetic disease. Deep phenotyping with radiological, histological and genetic approaches provides evidence that supports that these tumours are similar to cutaneous cylindromas and share a cytokeratin signature seen in cutaneous cylindroma. What is the translational message? Patients with this rare disease should be investigated if they present with new symptoms of respiratory disease. These data inform the clinical surveillance and management of patients with this rare condition and also inform the longstanding debate on benign metastases. Plain language summary available online Respond to this article