A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome. (2021)

• Record Type: Journal Article
• Authors: Adhikari, Nirajan; Karki, Apurwa
• Is Part Of: Respiratory medicine case reports. Volume 32(2021)
• Publication Date: 2021
• Subjects: Birt Hogg Dube syndrome (BHDS) -- Hornstein knickenburg syndrome -- European BHDS consortium Diagnosis of BHDS -- Management of BHD syndrome; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2021.101340
• Languages: English
• ISSNs: 2213-0071

Abstract

Abstract: Birt Hogg Dube (BHD) syndrome, also called as Hornstein Knickenburg syndrome is a rare syndrome caused by germline mutation in the folliculin (FLCN) gene and transmitted via autosomal dominant pattern. Different phenotypes with different manifestations have been reported including, skin manifestations as fibrofolliculoma, lung manifestations as pulmonary cysts and spontaneous pneumothorax, renal manifestations as renal neoplasia and rarely colon polyps and colon cancer. We presented a case of 35-year-old female with Birt-Hogg-Dube Syndrome.