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

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 thefolliculin gene, confirming the diagnosis of BHD. AbstractBirt –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 tes ting confirmed a heterozygous deletion of exons 6–8 in thefolliculin gene, confirming the diagnosis of BHD.
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: CASE REPORT Source Type: research