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Muir–Torre syndrome in a haemodialysis patient

Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mi...

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Autores principales: Godfrey, Evonne D., Coward, Robert A., Gharpuray-Pandit, Deepa, Lalloo, Fiona, McKirdy, Stuart, Woywodt, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898341/
https://www.ncbi.nlm.nih.gov/pubmed/27293570
http://dx.doi.org/10.1093/ckj/sft068
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author Godfrey, Evonne D.
Coward, Robert A.
Gharpuray-Pandit, Deepa
Lalloo, Fiona
McKirdy, Stuart
Woywodt, Alexander
author_facet Godfrey, Evonne D.
Coward, Robert A.
Gharpuray-Pandit, Deepa
Lalloo, Fiona
McKirdy, Stuart
Woywodt, Alexander
author_sort Godfrey, Evonne D.
collection PubMed
description Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing.
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spelling pubmed-48983412016-06-10 Muir–Torre syndrome in a haemodialysis patient Godfrey, Evonne D. Coward, Robert A. Gharpuray-Pandit, Deepa Lalloo, Fiona McKirdy, Stuart Woywodt, Alexander Clin Kidney J Original Contributions Muir–Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing. Oxford University Press 2013-08 /pmc/articles/PMC4898341/ /pubmed/27293570 http://dx.doi.org/10.1093/ckj/sft068 Text en © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Original Contributions
Godfrey, Evonne D.
Coward, Robert A.
Gharpuray-Pandit, Deepa
Lalloo, Fiona
McKirdy, Stuart
Woywodt, Alexander
Muir–Torre syndrome in a haemodialysis patient
title Muir–Torre syndrome in a haemodialysis patient
title_full Muir–Torre syndrome in a haemodialysis patient
title_fullStr Muir–Torre syndrome in a haemodialysis patient
title_full_unstemmed Muir–Torre syndrome in a haemodialysis patient
title_short Muir–Torre syndrome in a haemodialysis patient
title_sort muir–torre syndrome in a haemodialysis patient
topic Original Contributions
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898341/
https://www.ncbi.nlm.nih.gov/pubmed/27293570
http://dx.doi.org/10.1093/ckj/sft068
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