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 histol

SUBMITTER: Brown SM 

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

REPOSITORIES: biostudies-literature