A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
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 manifestatio...
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Veröffentlicht in: | Respiratory medicine case reports 2021-01, Vol.32, p.101340, Article 101340 |
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Hauptverfasser: | , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 2213-0071 2213-0071 |
DOI: | 10.1016/j.rmcr.2021.101340 |