The role of immunohistochemistry in the Muir-Torre Syndrome

AbstractMuir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case descri...

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Bibliographic Details
Main Authors: Cláudia Marina Puga Barbosa Oliveira (Author), Jullyene Gomes de Campos (Author), Maiko Ramacos Maia (Author), Larissa Eva dos Santos Lobo (Author), Fábio Francesconi do Valle (Author)
Format: Book
Published: Sociedade Brasileira de Dermatologia, 2015-06-01T00:00:00Z.
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100 1 0 |a Cláudia Marina Puga Barbosa Oliveira  |e author 
700 1 0 |a Jullyene Gomes de Campos  |e author 
700 1 0 |a Maiko Ramacos Maia  |e author 
700 1 0 |a Larissa Eva dos Santos Lobo  |e author 
700 1 0 |a Fábio Francesconi do Valle  |e author 
245 0 0 |a The role of immunohistochemistry in the Muir-Torre Syndrome 
260 |b Sociedade Brasileira de Dermatologia,   |c 2015-06-01T00:00:00Z. 
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500 |a 10.1590/abd1806-4841.20153406 
520 |a AbstractMuir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, as it revealed nuclear negativity for MSH2 and MSH6. 
546 |a EN 
546 |a PT 
690 |a Adenoma 
690 |a Colorectal Neoplasms 
690 |a DNA Repair 
690 |a Muir-Torre Syndrome 
690 |a Dermatology 
690 |a RL1-803 
655 7 |a article  |2 local 
786 0 |n Anais Brasileiros de Dermatologia, Vol 90, Iss 3 suppl 1, Pp 168-170 (2015) 
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787 0 |n http://www.scielo.br/pdf/abd/v90n3s1/0365-0596-abd-90-03-s1-0168.pdf 
787 0 |n https://doaj.org/toc/0365-0596 
856 4 1 |u https://doaj.org/article/4cad7b7e3b66463db9d45e5b3b422098  |z Connect to this object online.