A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker

Abstract

Abstract Birt–Hogg–Dubé syndrome (BHD) typically does not manifest airway obstruction despite the presence of multiple lung cysts. However, the long‐term effects of cigarette smoking on lung function among individuals with BHD are unknown. We report a case of a smoking individual diagnosed with BHD syndrome complicated by spontaneous pneumothorax and severe airway obstruction. The patient presented with chronic dyspnea and productive cough. Further work‐up revealed severe obstructive airflow limitation, and multiple lung cysts in both lungs, accompanied centrilobular emphysematous changes. Genetic testing confirmed a heterozygous deletion of exons 6–8 in the folliculin gene, confirming the diagnosis of BHD.

Keywords

• Birt–Hogg–Dubé syndrome
• centrilobular emphysema
• chronic obstructive disease
• folliculin
• paraseptal emphysema