Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors

Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bila...

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Detalles Bibliográficos
Autores principales: Lindor, Noralane M, Kasperbauer, Jan, Lewis, Jean E, Pittelkow, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492097/
https://www.ncbi.nlm.nih.gov/pubmed/23050938
http://dx.doi.org/10.1186/1897-4287-10-13
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author Lindor, Noralane M
Kasperbauer, Jan
Lewis, Jean E
Pittelkow, Mark
author_facet Lindor, Noralane M
Kasperbauer, Jan
Lewis, Jean E
Pittelkow, Mark
author_sort Lindor, Noralane M
collection PubMed
description Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.
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spelling pubmed-34920972012-11-08 Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors Lindor, Noralane M Kasperbauer, Jan Lewis, Jean E Pittelkow, Mark Hered Cancer Clin Pract Case Report Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome. BioMed Central 2012-10-10 /pmc/articles/PMC3492097/ /pubmed/23050938 http://dx.doi.org/10.1186/1897-4287-10-13 Text en Copyright ©2012 Lindor et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lindor, Noralane M
Kasperbauer, Jan
Lewis, Jean E
Pittelkow, Mark
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
title Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
title_full Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
title_fullStr Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
title_full_unstemmed Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
title_short Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
title_sort birt-hogg-dube syndrome presenting as multiple oncocytic parotid tumors
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492097/
https://www.ncbi.nlm.nih.gov/pubmed/23050938
http://dx.doi.org/10.1186/1897-4287-10-13
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