Recurrent Spontaneous Pneumothorax as a Manifestation of the Birt-Hogg-Dubé Syndrome: A Case Report

TL;DR

A woman with repeated lung collapses was diagnosed with a rare genetic disorder, highlighting the need for early testing and comprehensive care.

Contribution

This case report highlights BHDS as a potential cause of recurrent pneumothorax and emphasizes the importance of early genetic testing.

Findings

Recurrent spontaneous pneumothorax can be the first sign of Birt-Hogg-Dubé syndrome.

Genetic testing confirmed a pathogenic FLCN mutation in a patient with bilateral pulmonary cysts.

Early diagnosis and multidisciplinary care are essential for managing BHDS.

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by mutations in the folliculin (FLCN) 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.

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