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Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disease caused by mutations in the folliculin (FLCN) gene. It is characterized by lung cysts, skin fibrofolliculomas and an increased risk for the development of renal cancer, especially chromophobe. Lung cysts in the context of B...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218215/ https://www.ncbi.nlm.nih.gov/pubmed/32420021 http://dx.doi.org/10.1016/j.rmcr.2020.101081 |
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author | Tzilas, Vasilios Sgouros, Dimitrios Almpanis, Zannis Bouros, Demosthenes Tzouvelekis, Argyrios |
author_facet | Tzilas, Vasilios Sgouros, Dimitrios Almpanis, Zannis Bouros, Demosthenes Tzouvelekis, Argyrios |
author_sort | Tzilas, Vasilios |
collection | PubMed |
description | Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disease caused by mutations in the folliculin (FLCN) gene. It is characterized by lung cysts, skin fibrofolliculomas and an increased risk for the development of renal cancer, especially chromophobe. Lung cysts in the context of BHDS are typically lower lobe predominant, paramediastinal, in relation to the fissures and often elliptical shaped. Skin manifestations can easily go unnoticed. Respiratory physicians need to have a high degree of vigilance as they can be the first to suspect the disease in the setting of diffuse cystic lung disease. Meticulous skin examination and referral to a dermatologist is of utmost importance as it can establish the diagnosis in the least invasive way. Correct diagnosis is crucial as it may allow for genetic counseling to the affected family and the implementation of a monitoring strategy for early detection of renal cancer. |
format | Online Article Text |
id | pubmed-7218215 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-72182152020-05-15 Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series Tzilas, Vasilios Sgouros, Dimitrios Almpanis, Zannis Bouros, Demosthenes Tzouvelekis, Argyrios Respir Med Case Rep Case Report Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disease caused by mutations in the folliculin (FLCN) gene. It is characterized by lung cysts, skin fibrofolliculomas and an increased risk for the development of renal cancer, especially chromophobe. Lung cysts in the context of BHDS are typically lower lobe predominant, paramediastinal, in relation to the fissures and often elliptical shaped. Skin manifestations can easily go unnoticed. Respiratory physicians need to have a high degree of vigilance as they can be the first to suspect the disease in the setting of diffuse cystic lung disease. Meticulous skin examination and referral to a dermatologist is of utmost importance as it can establish the diagnosis in the least invasive way. Correct diagnosis is crucial as it may allow for genetic counseling to the affected family and the implementation of a monitoring strategy for early detection of renal cancer. Elsevier 2020-05-06 /pmc/articles/PMC7218215/ /pubmed/32420021 http://dx.doi.org/10.1016/j.rmcr.2020.101081 Text en © 2020 Published by Elsevier Ltd. 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 Tzilas, Vasilios Sgouros, Dimitrios Almpanis, Zannis Bouros, Demosthenes Tzouvelekis, Argyrios Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series |
title | Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series |
title_full | Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series |
title_fullStr | Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series |
title_full_unstemmed | Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series |
title_short | Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series |
title_sort | cystic lung disease in birt-hogg-dubé syndrome. a case series |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218215/ https://www.ncbi.nlm.nih.gov/pubmed/32420021 http://dx.doi.org/10.1016/j.rmcr.2020.101081 |
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