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Generational Expression of Muir-Torre Syndrome in a Canadian Family
المؤلفون المشاركون
Sibbald, R. Gary
Vanderbeck, Kaitlin Alexandra
Murugan, Nirosha
المصدر
Case Reports in Dermatological Medicine
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-10-16
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Vanderbeck, Kaitlin Alexandra& Sibbald, R. Gary& Murugan, Nirosha. 2016. Generational Expression of Muir-Torre Syndrome in a Canadian Family. Case Reports in Dermatological Medicine،Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1100637
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Vanderbeck, Kaitlin Alexandra…[et al.]. Generational Expression of Muir-Torre Syndrome in a Canadian Family. Case Reports in Dermatological Medicine No. 2016 (2016), pp.1-4.
https://search.emarefa.net/detail/BIM-1100637
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Vanderbeck, Kaitlin Alexandra& Sibbald, R. Gary& Murugan, Nirosha. Generational Expression of Muir-Torre Syndrome in a Canadian Family. Case Reports in Dermatological Medicine. 2016. Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1100637
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1100637
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
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