Birt–Hogg–Dube syndrome: A case report and case study of primary spontaneous pneumothorax caused by folliculin gene mutation

This case shows a typical phenomenon of family clustering that should raise clinical suspicion of BHD syndrome. BHD syndrome is a rare autosomal dominant genetic disorder that caused by mutations in FLCN gene. The gene is a tumor suppressor gene that encodes the follicle-stimulating hormone folliculin. Follicle-stimulating hormone folliculin is expressed in most tissues, including the skin and its appendages, type I alveolar epithelial cells, and distal renal tubular epithelial cells, which explains why BHD syndrome occurs in the skin, lungs, and kidneys. The literature review shows that there are 12 similar cases, including the male-to-female ratio and average age. Thoracoscopic surgery had the best effect, followed by conservative treatment, and the recurrence rate was higher after closed thoracic drainage. Due to the rarity of this syndrome, this article reminds clinicians to pay attention to its familial clustering characteristics during diagnosis and treatment, and also reminds other family members to pay attention to screening for the clinical features related to this syndrome, so as to facilitate early treatment. Furthermore, this case also provides significant reference value for identifying the causes and molecular mechanisms of spontaneous pneumothorax, especially those with a familial clustering tendency.