A rare cause of spontaneous pneumothorax: radiological findings and surgical approach

Abstract

Birt-Hogg-Dubé Syndrome (BHDS) is a rare genetic condition that affects the connective tissue of kidneys, lungs, and skin, causing an aberration in the proteic folliculin (FLCN) pathway. In the lungs, the altered FLCN is found in the outer part of the alveoli, particularly in the lower lobes, causing parenchymal weakness and subsequent cystic degeneration. Because of its rarity, a comprehensive management protocol is not available yet. We present a case of a man with left recurrent pneumothorax due to bilateral multiple bullae, as revealed by a preoperative chest Computed Tomography (CT) scan. Given the characteristic radiological features of BHDS, the CT scan should always be considered for the differential diagnosis to exclude other more common cystic diseases, such as lymphoid interstitial pneumonia, Langerhans cell histiocytosis, or lymphangioleiomyomatosis. Considering the different options suitable for bullous diseases, we decided to treat the patient with a pleural abrasion through a biportal Video-Assisted Thoracic Surgery approach and sterile talc pleurodesis. No more spontaneous episodes were reported one year later. Bullectomy was not carried out because the diffuse cystic intraoperative pattern would never be solved by marginal parenchymal resections. Relapsing spontaneous pneumothorax could be a spy of a hidden genetic disease (such as BHSD), and a CT scan should be considered case-by-case because it may provide crucial information regarding the overall lung pattern. In such cases, pleural abrasion with talc pleurodesis is a considerably effective treatment.

Keywords

Birt-Hogg-Dubé syndrome / pneumothorax / computed tomography / pulmonary cysts

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