Fatah Farman H, Watson John T
General Medicine, College of Medicine, University of Sulaymaniyah, Sulaymaniyah, IRQ.
Pulmonology and Critical Care, Sentara Martha Jefferson Hospital, Charlottsville, USA.
Cureus. 2025 May 27;17(5):e84890. doi: 10.7759/cureus.84890. eCollection 2025 May.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by mutations in the folliculin () gene, characterized by a clinical triad of pulmonary cysts with spontaneous pneumothorax, cutaneous fibrofolliculomas, and renal tumors. Pulmonary manifestations may occur in isolation, making early diagnosis challenging. This report describes the case of a 36-year-old woman with a history of right-sided spontaneous pneumothorax, managed with video-assisted thoracoscopic surgery (VATS) and pleurodesis, who re-presented seven years later with a left-sided pneumothorax. Conservative management failed, necessitating VATS pleurodesis and wedge resection of a ruptured subpleural bleb. High-resolution chest imaging revealed bilateral thin-walled pulmonary cysts, and subsequent genetic testing confirmed a pathogenic FLCN mutation, establishing the diagnosis of BHDS. This case underscores the importance of considering BHDS in patients with recurrent spontaneous pneumothorax, particularly in non-smokers and those without underlying lung disease. The recurrence of pneumothorax at a relatively early age highlights the natural course of BHDS and the tendency for pulmonary cyst rupture. It also reinforces the value of early genetic testing and a high index of suspicion for prompt diagnosis. Management extends beyond acute care, encompassing long-term surveillance for renal tumors, pulmonary function monitoring, and family genetic counseling. Recognition of atypical presentations without cutaneous or renal involvement is crucial, as pulmonary symptoms may be the sole initial manifestation. This report contributes to growing awareness of BHDS and emphasizes a multidisciplinary approach for optimal patient outcomes.
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的常染色体显性遗传病，由卵泡抑素（FLCN）基因突变引起，其临床特征为肺囊肿伴自发性气胸、皮肤纤维毛囊瘤和肾肿瘤三联征。肺部表现可能单独出现，这使得早期诊断具有挑战性。本报告描述了一例36岁女性病例，该患者有右侧自发性气胸病史，接受了电视辅助胸腔镜手术（VATS）和胸膜固定术治疗，7年后再次出现左侧气胸。保守治疗失败，因此进行了VATS胸膜固定术和对破裂的胸膜下肺大疱进行楔形切除术。高分辨率胸部成像显示双侧薄壁肺囊肿，随后的基因检测证实存在致病性FLCN突变，从而确诊为BHDS。该病例强调了对于复发性自发性气胸患者，尤其是非吸烟者和无基础肺部疾病者，考虑BHDS诊断的重要性。相对年轻时气胸复发突出了BHDS的自然病程以及肺囊肿破裂的倾向。这也强化了早期基因检测的价值以及高度怀疑以实现快速诊断的重要性。治疗不仅限于急性护理，还包括对肾肿瘤的长期监测、肺功能监测以及家庭遗传咨询。认识到无皮肤或肾脏受累的非典型表现至关重要，因为肺部症状可能是唯一的初始表现。本报告有助于提高对BHDS的认识，并强调采用多学科方法以实现最佳患者预后。
