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Pulmonary cystic disease associated with integumentary and renal manifestations

A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited...

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Autores principales: Cayetano, Katherine S., Albertson, Timothy E., Chan, Andrew L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial Department of Journal of Biomedical Research 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841477/
https://www.ncbi.nlm.nih.gov/pubmed/24285950
http://dx.doi.org/10.7555/JBR.27.20130079
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author Cayetano, Katherine S.
Albertson, Timothy E.
Chan, Andrew L.
author_facet Cayetano, Katherine S.
Albertson, Timothy E.
Chan, Andrew L.
author_sort Cayetano, Katherine S.
collection PubMed
description A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces.
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spelling pubmed-38414772013-11-27 Pulmonary cystic disease associated with integumentary and renal manifestations Cayetano, Katherine S. Albertson, Timothy E. Chan, Andrew L. J Biomed Res Case Report A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces. Editorial Department of Journal of Biomedical Research 2013-11 2013-10-28 /pmc/articles/PMC3841477/ /pubmed/24285950 http://dx.doi.org/10.7555/JBR.27.20130079 Text en © 2013 by the Journal of Biomedical Research. All rights reserved.
spellingShingle Case Report
Cayetano, Katherine S.
Albertson, Timothy E.
Chan, Andrew L.
Pulmonary cystic disease associated with integumentary and renal manifestations
title Pulmonary cystic disease associated with integumentary and renal manifestations
title_full Pulmonary cystic disease associated with integumentary and renal manifestations
title_fullStr Pulmonary cystic disease associated with integumentary and renal manifestations
title_full_unstemmed Pulmonary cystic disease associated with integumentary and renal manifestations
title_short Pulmonary cystic disease associated with integumentary and renal manifestations
title_sort pulmonary cystic disease associated with integumentary and renal manifestations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841477/
https://www.ncbi.nlm.nih.gov/pubmed/24285950
http://dx.doi.org/10.7555/JBR.27.20130079
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