Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome

TL;DR

A rare case of simultaneous bilateral spontaneous pneumothorax led to the diagnosis of Birt-Hogg-Dubè syndrome through genetic testing.

Contribution

First reported case linking simultaneous bilateral spontaneous pneumothorax with Birt-Hogg-Dubè syndrome confirmed via genetic analysis.

Findings

Simultaneous bilateral spontaneous pneumothorax can be a presenting feature of Birt-Hogg-Dubè syndrome.

Genetic testing confirmed a mutation in the folliculin gene associated with the syndrome.

Abstract

Simultaneous bilateral spontaneous pneumothorax is a very rare clinical event, comprising approximately 1% of all
spontaneous pneumothoraces. Clinical signs and symptoms may vary from mild chest pain and dyspnea to severe respiratory
failure; nevertheless immediate treatment is mandatory as this condition can deteriorate and progress to tension pneumothorax. An underlying lung disease has been commonly described;
in most istances primary or secondary tumors, interstitial diseases, and infectious diseases.
Birt-Hogg-Dubè syndrome is a rare inherited disorder clinically characterized by multiple fibrofolliculomas, renal tumors, lung cysts, and, in ~24% of the patients, occurrence of spontaneous pneumothorax. In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17.

Figures