Br J Dermatol 2018 Sep 29;179(3):662-668. Epub 2018 May 29.
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, U.K.
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.
Inherited pulmonary cylindromas, S.M. Brown et al.
We have submitted your request - we will update you on status within the next 24 hours.
Sign up for further access to Scientific Publications and Authors!
What are PubFacts Points?
PubFacts points are rewards to PubFacts members, which allow you to better promote your profile and articles throughout PubFacts.com
How do I earn PubFacts Points?
Each member is given 50 PubFacts points upon signing up. You can earn additional points by completing 100% of your profile, creating and participating in discussions, and sharing other members research.
What can I do with PubFacts Points?
Currently, you can use PubFacts Points to promote and increase readership of your articles.