A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene
Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/926896 |
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| _version_ | 1832554784935116800 |
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| author | Christin B. Laufer Layne B. Green Darren E. Whittemore |
| author_facet | Christin B. Laufer Layne B. Green Darren E. Whittemore |
| author_sort | Christin B. Laufer |
| collection | DOAJ |
| description | Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management. |
| format | Article |
| id | doaj-art-641414ed081945ed8b9ab5a688459595 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-641414ed081945ed8b9ab5a6884595952025-02-03T05:50:33ZengWileyCase Reports in Medicine1687-96271687-96352013-01-01201310.1155/2013/926896926896A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase GeneChristin B. Laufer0Layne B. Green1Darren E. Whittemore2Department of Internal Medicine, Keesler Medical Center, Biloxi, MS 39534, USADepartment of Dermatology, San Antonio Uniformed Services Health Education Consortium (SAUSHEC), San Antonio, TX 78236, USADepartment of Dermatopathology, San Antonio Uniformed Services Health Education Consortium (SAUSHEC), San Antonio, TX 78236, USAReed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management.http://dx.doi.org/10.1155/2013/926896 |
| spellingShingle | Christin B. Laufer Layne B. Green Darren E. Whittemore A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene Case Reports in Medicine |
| title | A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene |
| title_full | A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene |
| title_fullStr | A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene |
| title_full_unstemmed | A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene |
| title_short | A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene |
| title_sort | case of reed syndrome with a novel mutation in the fumarate hydratase gene |
| url | http://dx.doi.org/10.1155/2013/926896 |
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