Birt–Hogg–Dubé Syndrome (BHDS) is a rare autosomal dominant disorder associated with mutations in the Foliculin gene (FLCN), characterized by skin lesions, renal tumors (often malignant or leading to malignancy), and lung cysts, often leading to spontaneous pneumothorax. Lung function is generally preserved in these patients, which is why lung transplantation (LTx) has not been performed in this population to date. Below, we present the case of a 15-year-old boy with BHDS, with extensive cystic lung disease, complicated by recurrent pneumothorax (requiring pleurodesis) and, in his case, progressive respiratory failure, who ultimately underwent double sequential lung transplantation (DLTx). Postoperative management included treatment of humoral rejection and treatment of SARS-CoV-2 infection, in addition to typical immunosuppression. To our knowledge, this is the first DLTx for BHDS reported worldwide. The patient underwent a double lung transplant due to a life-threatening recurrent pneumothorax. This case highlights the importance of multidisciplinary care and demonstrates the feasibility of transplantation in advanced cases of BHDS (despite prior pleurodesis).

Background: Mounier-Kuhn syndrome is a rare disorder characterized by marked dilatation of the trachea and main bronchi, respiratory infections, bronchiectasis, and progressive respiratory failure. Lung transplantation (LTx) in this condition has only rarely been reported and may be technically challenging because of the abnormal size and structure of the main airways. Case presentation: We describe two consecutive patients with Mounier-Kuhn syndrome who underwent bilateral lung transplantation at our center. Both patients had advanced respiratory disease with marked tracheobronchial dilatation. In the first patient, preoperative planning included patient-specific three-dimensional reconstruction and printing of the trachea and proximal bronchi. Because of severe enlargement of the recipient bronchus, a telescopic bronchial anastomosis was used. The postoperative course was complicated by bronchial stenosis requiring repeated bronchoscopic interventions and stent placement. The second patient underwent bilateral LTx without major airway complications and had a favorable early postoperative course. Conclusions: Lung transplantation can be successfully performed in selected patients with end-stage respiratory failure due to Mounier-Kuhn syndrome. Careful preoperative airway assessment and individualized planning of bronchial anastomosis are crucial in such patients.