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Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sociedade Brasileira de Dermatologia
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726688/ https://www.ncbi.nlm.nih.gov/pubmed/29267457 http://dx.doi.org/10.1590/abd1806-4841.20175380 |
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author | Çaliskan, Ercan Bodur, Serkan Ulubay, Mustafa Özmen, Ibrahim Çiçek, Ali Fuat Deveci, Güzin Kaya, Engin |
author_facet | Çaliskan, Ercan Bodur, Serkan Ulubay, Mustafa Özmen, Ibrahim Çiçek, Ali Fuat Deveci, Güzin Kaya, Engin |
author_sort | Çaliskan, Ercan |
collection | PubMed |
description | Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance. |
format | Online Article Text |
id | pubmed-5726688 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-57266882017-12-18 Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset Çaliskan, Ercan Bodur, Serkan Ulubay, Mustafa Özmen, Ibrahim Çiçek, Ali Fuat Deveci, Güzin Kaya, Engin An Bras Dermatol Case Report Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance. Sociedade Brasileira de Dermatologia 2017 /pmc/articles/PMC5726688/ /pubmed/29267457 http://dx.doi.org/10.1590/abd1806-4841.20175380 Text en ©2017 by Anais Brasileiros de Dermatologia 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 which permits unrestricted non-commercial use, distribution, and reproduction in any medium provided the original work is properly cited. |
spellingShingle | Case Report Çaliskan, Ercan Bodur, Serkan Ulubay, Mustafa Özmen, Ibrahim Çiçek, Ali Fuat Deveci, Güzin Kaya, Engin Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset |
title | Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case
report and implications of early onset |
title_full | Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case
report and implications of early onset |
title_fullStr | Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case
report and implications of early onset |
title_full_unstemmed | Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case
report and implications of early onset |
title_short | Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case
report and implications of early onset |
title_sort | hereditary leiomyomatosis and renal cell carcinoma syndrome: a case
report and implications of early onset |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726688/ https://www.ncbi.nlm.nih.gov/pubmed/29267457 http://dx.doi.org/10.1590/abd1806-4841.20175380 |
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