Birt-Hogg-Dubé syndrome: case report and brief review of the literature

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 ge...

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Autores principales:	Dhairya A Lakhani, MD, Lana Winkler, MD, Mark Lisle, MD
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2022
Materias:	Birt-Hogg-Dubé syndrome BHDS cystic lung disease Medical physics. Medical radiology. Nuclear medicine R895-920
Acceso en línea:	https://doaj.org/article/41073dd7d3e444f49cccfce284d048ec
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spelling	oai:doaj.org-article:41073dd7d3e444f49cccfce284d048ec2021-11-30T04:15:23ZBirt-Hogg-Dubé syndrome: case report and brief review of the literature1930-043310.1016/j.radcr.2021.10.052https://doaj.org/article/41073dd7d3e444f49cccfce284d048ec2022-01-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1930043321007639https://doaj.org/toc/1930-0433Birt-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. This syndrome is often underdiagnosed. Presence of lung cysts on chest CT should prompt inclusion of BHDS in the differential diagnosis, since these findings may develop earlier than other manifestations. There are key imaging characteristics of pulmonary cysts on CT of the chest which can suggest the diagnosis of BHDS and help in early detection and prompt screening for renal tumors. The main concern with BHDS is the increased risk of renal carcinoma. Here, we report a case of a 59-year-old male who was suspected to have the diagnosis of BHDS based on characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.Dhairya A Lakhani, MDLana Winkler, MDMark Lisle, MDElsevierarticleBirt-Hogg-Dubé syndromeBHDScystic lung diseaseMedical physics. Medical radiology. Nuclear medicineR895-920ENRadiology Case Reports, Vol 17, Iss 1, Pp 250-253 (2022)
institution	DOAJ
collection	DOAJ
language	EN
topic	Birt-Hogg-Dubé syndrome BHDS cystic lung disease Medical physics. Medical radiology. Nuclear medicine R895-920
spellingShingle	Birt-Hogg-Dubé syndrome BHDS cystic lung disease Medical physics. Medical radiology. Nuclear medicine R895-920 Dhairya A Lakhani, MD Lana Winkler, MD Mark Lisle, MD Birt-Hogg-Dubé syndrome: case report and brief review of the literature
description	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. This syndrome is often underdiagnosed. Presence of lung cysts on chest CT should prompt inclusion of BHDS in the differential diagnosis, since these findings may develop earlier than other manifestations. There are key imaging characteristics of pulmonary cysts on CT of the chest which can suggest the diagnosis of BHDS and help in early detection and prompt screening for renal tumors. The main concern with BHDS is the increased risk of renal carcinoma. Here, we report a case of a 59-year-old male who was suspected to have the diagnosis of BHDS based on characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.
format	article
author	Dhairya A Lakhani, MD Lana Winkler, MD Mark Lisle, MD
author_facet	Dhairya A Lakhani, MD Lana Winkler, MD Mark Lisle, MD
author_sort	Dhairya A Lakhani, MD
title	Birt-Hogg-Dubé syndrome: case report and brief review of the literature
title_short	Birt-Hogg-Dubé syndrome: case report and brief review of the literature
title_full	Birt-Hogg-Dubé syndrome: case report and brief review of the literature
title_fullStr	Birt-Hogg-Dubé syndrome: case report and brief review of the literature
title_full_unstemmed	Birt-Hogg-Dubé syndrome: case report and brief review of the literature
title_sort	birt-hogg-dubé syndrome: case report and brief review of the literature
publisher	Elsevier
publishDate	2022
url	https://doaj.org/article/41073dd7d3e444f49cccfce284d048ec
work_keys_str_mv	AT dhairyaalakhanimd birthoggdubesyndromecasereportandbriefreviewoftheliterature AT lanawinklermd birthoggdubesyndromecasereportandbriefreviewoftheliterature AT marklislemd birthoggdubesyndromecasereportandbriefreviewoftheliterature
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Birt-Hogg-Dubé syndrome: case report and brief review of the literature

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