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

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.

FIGURE 1

Chest computed tomography images showed mixed features of Birt‐Hogg‐Dubé syndrome (BHD) and centrilobular emphysema. Chest computer tomography images (A: apex region, B: upper region, C: middle region, D: lower region, E: coronal anterior section, F: coronal posterior section): Multiple lung cysts consistent with features of BHD are observed (white arrows), and centrilobular emphysema (white triangles) are observed. Calcified pleural plaques (red arrow) are also observed.