Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome.
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.
Thoracic Surgery Division, Tor Vergata University, Viale Oxford 81, 00133 Rome, Italy.
Alessandro
A
Tamburrini
Thoracic Surgery Division, Tor Vergata University, Viale Oxford 81, 00133 Rome, Italy.
Francesco
F
Sellitri
Thoracic Surgery Division, Tor Vergata University, Viale Oxford 81, 00133 Rome, Italy.
Federico
F
Tacconi
Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University, Chieti, Italy ; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy.
Francesco
F
Brancati
Thoracic Surgery Division, Tor Vergata University, Viale Oxford 81, 00133 Rome, Italy.
Tommaso Claudio
TC
Mineo