title: [Female patient with Muir-Torre syndrome].
abstract: 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.
authors.affiliation: Klinik für Augenheilkunde, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin. nico.negraszus@charite.de
authors.forename: N
authors.initials: N
authors.lastname: Negraszus
authors.forename: K
authors.initials: K
authors.lastname: Jöhrens
authors.forename: E
authors.initials: E
authors.lastname: Bertelmann
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D053843:DNA Mismatch Repair / Q000235:genetics; D005142:Eyelid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005143:Eyelids / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D053842:Microsatellite Instability; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D009687:Nuclear Proteins / Q000235:genetics; D012086:Reoperation; D012626:Sebaceous Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
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