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Case Reports
. 2024 Mar 23;12(3):e01327.
doi: 10.1002/rcr2.1327. eCollection 2024 Mar.

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

Kiyoshi Uemasu  1 , Toru Nyunoya  1   2
Affiliations
Case Reports

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

Kiyoshi Uemasu et al. Respirol Case Rep. .

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.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
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.
See this image and copyright information in PMC

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