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IP International Journal of Ocular Oncology and Oculoplasty


A case report on Muir -Torre syndrome in a male with colon cancer and sebaceous carcinoma of right upper lid


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Author Details : Saroj Indersain Sahdev, Priti Hareshkumar Nirmal, Anamika Hemant Agrawal

Volume : 3, Issue : 3, Year : 2017

Article Page : 233-235


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Abstract

Introduction: Muir-Torre syndrome (MTS) is a rare, autosomal dominant, genetic condition characterised by occurrence of sebaceous tumors and visceral malignancies. The most common visceral malignancy associated with Muir Torre syndrome is colorectal carcinomas. The internal malignancies can occur many years before or after the skin lesions. The syndrome is characterised by defects in DNA mismatch repair gene. Mutations may arise in either the MSH2 or MLH1 gene.
Case: In this article, we present the case of a 52 year old male who was diagnosed with colorectal carcinoma at 45 years of age, he underwent hemicolectomy followed by chemotherapy for the same. Histopathology of excised colonic segment was suggestive of adenocarcinoma. The patient then complained of gradual onset, painless progressive swelling over right upper lid since 6 months for which he underwent an incisional biopsy. Histopathology report suggestive of sebaceous carcinoma Immunohistochemistry showed expression of MLH1and PMS2 on tumor cells. Patient underwent upper lid mass excision with reconstruction of upper lid with Cutler Beards flap procedure. Histopathology of excised mass was suggestive of sebaceous carcinoma. No recurrence has been noted so far.
Conclusion: Muir Torre syndrome is a rare disorder with only 200 cases reported so far. However, a patient diagnosed with sebaceous tumor should be screened for visceral malignancy. The family members should also be screened for visceral malignancy.

Keywords: Colon cancer, Cutler beards flap, Eye Lid tumor, Muir torre syndrome, Sebaceous adenoma

How to cite : Sahdev S I, Nirmal P H, Agrawal A H, A case report on Muir -Torre syndrome in a male with colon cancer and sebaceous carcinoma of right upper lid. IP Int J Ocul Oncol Oculoplasty 2017;3(3):233-235

Copyright © 2017 by author(s) and IP Int J Ocul Oncol Oculoplasty. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC-BY-NC 4.0) (creativecommons.org)