title: Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma.
abstract: Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Sunil
authors.initials: S
authors.lastname: Tulpule
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Hiyam
authors.initials: H
authors.lastname: Ibrahim
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Osman
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Shoaib
authors.initials: S
authors.lastname: Zafar
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Romana
authors.initials: R
authors.lastname: Kanta
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Gregory
authors.initials: G
authors.lastname: Shypula
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Islam
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Shuvendu
authors.initials: S
authors.lastname: Sen
authors.affiliation: Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
authors.forename: Abdalla
authors.initials: A
authors.lastname: Yousif
keywords: Hereditary nonpolyposis colon cancer; MSH6; Muir-Torre syndrome; Sebaceous carcinoma