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 thro...

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

Giraudo, Chiara;Zuin, Andrea;Dell'Amore, Andrea;Rea, Federico
2023

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 thro...
2023
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3516136
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