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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Autores principales: Adhikari, Nirajan, Karki, Apurwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823044/
https://www.ncbi.nlm.nih.gov/pubmed/33532236
http://dx.doi.org/10.1016/j.rmcr.2021.101340
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author Adhikari, Nirajan
Karki, Apurwa
author_facet Adhikari, Nirajan
Karki, Apurwa
author_sort Adhikari, Nirajan
collection PubMed
description 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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spelling pubmed-78230442021-02-01 A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome Adhikari, Nirajan Karki, Apurwa Respir Med Case Rep Case Report 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. Elsevier 2021-01-16 /pmc/articles/PMC7823044/ /pubmed/33532236 http://dx.doi.org/10.1016/j.rmcr.2021.101340 Text en © 2021 Guthrie/Robert Packer Hospital http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Adhikari, Nirajan
Karki, Apurwa
A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
title A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
title_full A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
title_fullStr A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
title_full_unstemmed A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
title_short A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome
title_sort case report of recurrent pneumothoraces as a presentation of birt hogg dube syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823044/
https://www.ncbi.nlm.nih.gov/pubmed/33532236
http://dx.doi.org/10.1016/j.rmcr.2021.101340
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