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Talgdrüsenkarzinom mit seltener Genmutation im Rahmen eines Tumorsyndroms

Muir-Torre-Syndrom

Sebaceous gland tumor with a rare gene mutation within a tumor syndrome

Muir-Torre syndrome

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Zusammenfassung

Das Muir-Torre-Syndrom ist eine sehr seltene phänotypische Variante des hereditären nonpolypösen kolorektalen Karzinoms. Es ist gekennzeichnet durch das gemeinsame Auftreten mindestens eines Talgdrüsentumors mit gastrointestinalen und urogenitalen Tumoren. Anhand der Kasuistik eines 72-jährigen Patienten, der zur Exzision eines Oberlidtumors zugewiesen wurde, soll der Weg vom klinischen Befund bis zur seltenen Diagnose dargestellt werden.

Abstract

Muir-Torre syndrome is a rare autosomal dominant subtype of hereditary nonpolyposis colorectal carcinoma and is characterized by the simultaneous occurrence of sebaceous gland neoplasms with visceral and urogenital malignancies. This article describes the case of a 72-year-old patient who was referred to our clinic for removal of an upper eyelid tumor, showing the course from the clinical findings to the rare diagnosis of Muir-Torre syndrome.

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Voigt, E., Sommer, F., Geiger, K. et al. Talgdrüsenkarzinom mit seltener Genmutation im Rahmen eines Tumorsyndroms. Ophthalmologe 111, 369–372 (2014). https://doi.org/10.1007/s00347-013-2879-x

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  • DOI: https://doi.org/10.1007/s00347-013-2879-x

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