A Case of Spontaneous Pneumothorax: Don't Miss Birt-Hogg Dubé Syndrome!
DOI:
https://doi.org/10.14419/p7304464Published
24-12-2025Keywords:
Birt-Hogg-Dubé Syndrome; Cystic Lung Disease; FLCN GeneAbstract
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. It results from mutation of the gene located on the short arm of chromosome 17 (17p11.2). The gene codes for the protein folliculin, which is believed to be an oncogene suppressor protein. we report a case of a 66-year-old male who was suspected to have the diagnosis of BHDS based on recurrent pneumothorax , family history of pneumothorax and characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.
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