ArticleDer Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete2013
[Muir-Torre syndrome with previously undescribed frameshift mutation in the MSH2 gene].
Article in Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 1 citations in OpenAlex.
- [Colorectal cancer and associated sebaceous gland carcinoma - a syndrome?]Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2017Article
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6 authors at 3 institutions in 2 countries.
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Abstract
Muir-Torre syndrome (MTS) is a rare phenotypic variant of hereditary non-polyposis colorectal carcinoma (HNPCC, Lynch syndrome), in which patients, in addition to visceral carcinomas, develop skin tumors. Multiple keratoacanthomas and basal cell carcinomas with sebocytic differentiation are characteristic as well as multiple benign and malignant tumors of the sebaceous glands, such as sebaceous adenoma, sebaceous epithelioma (sebaceoma) and sebaceous carcinoma. Particularly Cystic tumors of the sebaceous glands are especially suggestive of MTS. In genetically predisposed persons, cutaneous and visceral tumors are diagnosed at an average age of 53 years. Here we present an interesting case of a 65-year-old man in whom molecular genetic tests revealed a novel mutation in the MSH2 gene, leading to a frame shift within the gene.
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