Generational Expression of Muir-Torre Syndrome in a Canadian Family
Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She ha...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Dermatological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2016/1712527 |
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| author | Kaitlin Alexandra Vanderbeck R. Gary Sibbald Nirosha Murugan |
| author_facet | Kaitlin Alexandra Vanderbeck R. Gary Sibbald Nirosha Murugan |
| author_sort | Kaitlin Alexandra Vanderbeck |
| collection | DOAJ |
| description | Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed HMSH2 mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life. She has a confirmed extensive family history of MTS with both male and female family members harbouring either HMLH1 or HSMH2 mutations. Affected relatives have presented at different ages throughout their lives with cutaneous neoplasms and visceral malignancies, including malignancies rarely associated with MTS. MTS presents a diagnostic challenge for clinicians. The case demonstrates that the management of MTS, a potentially underreported syndrome, requires a multiprofessional approach incorporating vigilance, screening, and expert knowledge for successful diagnosis and potentially improved prognosis for patients and their families. The case also demonstrates the varied heritability of MTS and prompts the question of how MTS is expressed in succeeding generations. |
| format | Article |
| id | doaj-art-91f5e94dcd18400cb41c0dbbe4cb01d7 |
| institution | Kabale University |
| issn | 2090-6463 2090-6471 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Dermatological Medicine |
| spelling | doaj-art-91f5e94dcd18400cb41c0dbbe4cb01d72025-02-03T05:57:49ZengWileyCase Reports in Dermatological Medicine2090-64632090-64712016-01-01201610.1155/2016/17125271712527Generational Expression of Muir-Torre Syndrome in a Canadian FamilyKaitlin Alexandra Vanderbeck0R. Gary Sibbald1Nirosha Murugan2Department of Medicine, Northern Ontario School of Medicine, Laurentian University, 935 Ramsey Lake Road, Sudbury, ON, P3E2C6, CanadaDepartment of Medicine, University of Toronto, Women’s College Hospital, 76 Grenville St., Toronto, ON, M5S 1B2, CanadaDepartment of Biomolecular Sciences, Laurentian University, 935 Ramsey Lake Road, Sudbury, ON, CanadaMuir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed HMSH2 mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life. She has a confirmed extensive family history of MTS with both male and female family members harbouring either HMLH1 or HSMH2 mutations. Affected relatives have presented at different ages throughout their lives with cutaneous neoplasms and visceral malignancies, including malignancies rarely associated with MTS. MTS presents a diagnostic challenge for clinicians. The case demonstrates that the management of MTS, a potentially underreported syndrome, requires a multiprofessional approach incorporating vigilance, screening, and expert knowledge for successful diagnosis and potentially improved prognosis for patients and their families. The case also demonstrates the varied heritability of MTS and prompts the question of how MTS is expressed in succeeding generations.http://dx.doi.org/10.1155/2016/1712527 |
| spellingShingle | Kaitlin Alexandra Vanderbeck R. Gary Sibbald Nirosha Murugan Generational Expression of Muir-Torre Syndrome in a Canadian Family Case Reports in Dermatological Medicine |
| title | Generational Expression of Muir-Torre Syndrome in a Canadian Family |
| title_full | Generational Expression of Muir-Torre Syndrome in a Canadian Family |
| title_fullStr | Generational Expression of Muir-Torre Syndrome in a Canadian Family |
| title_full_unstemmed | Generational Expression of Muir-Torre Syndrome in a Canadian Family |
| title_short | Generational Expression of Muir-Torre Syndrome in a Canadian Family |
| title_sort | generational expression of muir torre syndrome in a canadian family |
| url | http://dx.doi.org/10.1155/2016/1712527 |
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