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

Abstract excerpt

RATIONALE: Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant disorder characterized by a triad of manifestations, including recurrent spontaneous pneumothorax, multiple cutaneous fibrofolliculomas, and renal neoplasms. Familial clustering of spontaneous pneumothorax should raise clinical suspicion of BHD syndrome. This syndrome is caused by pathogenic variants of the folliculin gene (FLCN gene) encoding...

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