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Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.

ABSTRACT: 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.

SUBMITTER: Brown SM

PROVIDER: S-EPMC6175122 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.

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

The British journal of dermatology 20180529 3

<h4>Background</h4>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.<h4>Objectives</h4>To search for clinical and radiological features of multiple pulmonary cylindromas in a cohort of 16 patients with CYLD mutations.<h4>Methods</h4>A retrospective case-note review was carried out in a tertiary derma ...[more]

PMID: 29569226

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Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.

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Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.

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