Female patient with Muir-Torre syndrome

被引：0

作者：

Negraszus, N. ^{[1
]}

Joehrens, K. ^{[2
]}

Bertelmann, E. ^{[1
]}

机构：

[1] Charite, Klin Augenheilkunde, D-13353 Berlin, Germany

[2] Charite, Inst Pathol, D-13353 Berlin, Germany

来源：

OPHTHALMOLOGE | 2010年 / 107卷 / 11期

关键词：

Muir-Torre syndrome; Hereditary nonpolyposis colorectal carcinoma (HNPCC); Genodermatosis; Mismatch repair gene; Microsatellite instability; MUTATIONS; TUMORS;

D O I：

10.1007/s00347-010-2165-0

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Muir-Torre syndrome is a rare form of genodermatosis characterized by sebaceous tumours or keratocanthoma and early occurrence of intestinal malignancies. In addition to the patient history immunohistochemical and genetic analysis for microsatellite instability and reduced expression of the mismatch repair gene MSH2 and MLH1 can be used to confirm the diagnosis. Because of this important association, Muir-Torre syndrome should be excluded if a patient presents with a sebaceous tumour.

引用

页码：1059 / 1062

页数：4

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