Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase

We report on an exceedingly rare case of cutaneous and uterine leiomyomatosis in a 58-year-old Caucasian woman associated with ovarian cystadenoma and complete deletion of the fumarate hydratase gene. All patients and their family members with verified mutation have to be regularly screened for asso...

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Detalles Bibliográficos
Autores principales: Hüller, Cornelia, Grunow, Norbert, Nadler, Torsten, Bär, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Derm101.com 2011
Materias:
Observation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3881079/
https://www.ncbi.nlm.nih.gov/pubmed/24396716
http://dx.doi.org/10.5826/dpc.0101a07
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author Hüller, Cornelia
Grunow, Norbert
Nadler, Torsten
Bär, Michael
author_facet Hüller, Cornelia
Grunow, Norbert
Nadler, Torsten
Bär, Michael
author_sort Hüller, Cornelia
collection PubMed
description We report on an exceedingly rare case of cutaneous and uterine leiomyomatosis in a 58-year-old Caucasian woman associated with ovarian cystadenoma and complete deletion of the fumarate hydratase gene. All patients and their family members with verified mutation have to be regularly screened for associated neoplasms, in particular papillary renal cell carcinoma (HLRCC, hereditary leiomyomatosis and renal cell cancer).
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spelling pubmed-38810792014-01-06 Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase Hüller, Cornelia Grunow, Norbert Nadler, Torsten Bär, Michael Dermatol Pract Concept Observation We report on an exceedingly rare case of cutaneous and uterine leiomyomatosis in a 58-year-old Caucasian woman associated with ovarian cystadenoma and complete deletion of the fumarate hydratase gene. All patients and their family members with verified mutation have to be regularly screened for associated neoplasms, in particular papillary renal cell carcinoma (HLRCC, hereditary leiomyomatosis and renal cell cancer). Derm101.com 2011-01-31 /pmc/articles/PMC3881079/ /pubmed/24396716 http://dx.doi.org/10.5826/dpc.0101a07 Text en Copyright ©2011 Hüller et al This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Observation
Hüller, Cornelia
Grunow, Norbert
Nadler, Torsten
Bär, Michael
Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
title Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
title_full Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
title_fullStr Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
title_full_unstemmed Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
title_short Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
title_sort cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
topic Observation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3881079/
https://www.ncbi.nlm.nih.gov/pubmed/24396716
http://dx.doi.org/10.5826/dpc.0101a07
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AT nadlertorsten cutaneousanduterineleiomyomatosisandovariancystadenomaassociatedwithdeficiencyoffumaratehydratase
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