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

We present a case of a heterozygous mutation in the <i>FLCN</i> 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.