The role of immunohistochemistry in the Muir-Torre Syndrome

Anais Brasileiros de Dermatologia

Cláudia Marina Puga Barbosa Oliveira¹  Jullyene Gomes De Campos¹  Maiko Ramacos Maia¹  Larissa Eva Dos Santos Lobo¹  Fábio Francesconi Do Valle¹ 

关键词: Adenoma;    Colorectal Neoplasms;    DNA Repair;    Muir-Torre Syndrome;   

DOI  :  10.1590/abd1806-4841.20153406

来源: SciELO

【 摘 要 】

Abstract Muir-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.

【 授权许可】

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