Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder associated with mutations in the BHD gene, which can manifest symptoms at any age, including dermatological and pulmonary complications, as well as renal tumors. This study presents a case of a BHD patient who experienced spontaneous pneumothorax, aiming to enhance the understanding of this syndrome.

A 42-year-old female patient presented with left-sided chest pain and tightness lasting three days. Chest computed tomography scans revealed left-sided pneumothorax and multiple pulmonary bullae. Physical examination indicated decreased vocal fremitus and tympanic percussion on the left side. A thorough family history revealed a pattern of pulmonary disorders, including emphysema, spontaneous pneumothorax, and lung cancer among relatives. Genetic testing identified a heterozygous frameshift mutation in the FLCN gene at the 17p11.2 locus. Based on the clinical presentation, imaging findings, family history, and genetic results, the patient was suspected to have BHD syndrome.

We present a case of a heterozygous mutation in the FLCN gene in a patient with BHD syndrome, aiming to review the associated clinical characteristics and genetic mechanisms of this condition. This case serves as a reference point to offer insights into the diagnosis of multiple pulmonary cysts and spontaneous pneumothorax of unknown etiology in clinical practice.