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林奇综合征中的眼外皮脂腺癌:穆尔-托里综合征的一个皮肤前哨线索。

Extraocular Sebaceous Carcinoma in Lynch Syndrome: A Sentinel Cutaneous Clue to Muir-Torre Syndrome.

作者信息

Dhamale Suyog S, Baghel Anshu, Kanak Kusumika, Sardesai Vidyadhar

机构信息

Department of Dermatology, Venereology and Leprosy, Bharati Vidyapeeth Medical College, Pune, IND.

Department of Dermatology, King Edward Memorial Hospital, Pune, IND.

出版信息

Cureus. 2025 Jul 18;17(7):e88267. doi: 10.7759/cureus.88267. eCollection 2025 Jul.

DOI:10.7759/cureus.88267
PMID:40831808
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12358640/
Abstract

Sebaceous carcinoma (SC) is a rare and aggressive cutaneous malignancy, most commonly arising in the periocular region. Extraocular presentations, particularly in patients with Lynch syndrome (LS), are uncommon but clinically significant. We report the case of a 70-year-old male with a known diagnosis of LS and a strong family history of visceral malignancies, who presented with a rapidly enlarging lesion on the forehead. Histopathological examination confirmed extraocular sebaceous carcinoma with a high Ki-67 proliferative index. The lesion was managed successfully with Mohs micrographic surgery (MMS) to ensure complete excision and minimize recurrence. This case fulfilled clinical and molecular criteria for Muir-Torre syndrome (MTS), a phenotypic variant of LS characterized by sebaceous neoplasms and internal malignancies. It underscores the importance of recognizing cutaneous markers of hereditary cancer syndromes and emphasizes the need for prompt dermatological and genetic evaluation in at-risk individuals. Early intervention facilitates timely treatment and familial cancer surveillance.

摘要

皮脂腺癌(SC)是一种罕见的侵袭性皮肤恶性肿瘤,最常发生于眼周区域。眼外表现,尤其是在林奇综合征(LS)患者中,并不常见但具有临床意义。我们报告一例70岁男性病例,该患者已知患有LS且有内脏恶性肿瘤的家族史,其前额出现迅速增大的病变。组织病理学检查确诊为眼外皮脂腺癌,Ki-67增殖指数高。该病变通过莫氏显微外科手术(MMS)成功治疗,以确保完全切除并将复发风险降至最低。该病例符合穆尔-托雷综合征(MTS)的临床和分子标准,MTS是LS的一种表型变异,其特征为皮脂腺肿瘤和内脏恶性肿瘤。它强调了识别遗传性癌症综合征皮肤标志物的重要性,并强调了对高危个体进行及时皮肤科和基因评估的必要性。早期干预有助于及时治疗和家族性癌症监测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/dd1e133ce39f/cureus-0017-00000088267-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/054aba197ac2/cureus-0017-00000088267-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/faf3e4c7725b/cureus-0017-00000088267-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/8fac0e281fc6/cureus-0017-00000088267-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/dd1e133ce39f/cureus-0017-00000088267-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/054aba197ac2/cureus-0017-00000088267-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/faf3e4c7725b/cureus-0017-00000088267-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/8fac0e281fc6/cureus-0017-00000088267-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7a8/12358640/dd1e133ce39f/cureus-0017-00000088267-i04.jpg

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