从表面看:缪尔-托雷综合征。

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Archive of clinical cases Pub Date : 2023-09-20 eCollection Date: 2023-01-01 DOI:10.22551/2023.40.1003.10255
Ekta Bagga, David Innes, Edmund Leung
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摘要

Muir-Torre综合征(MTS)与多种内脏恶性肿瘤有关。最初的表现可能是类似皮脂腺囊肿的良性皮肤肿瘤。这份病例报告强调了早期诊断、基因检测和多学科筛查的重要性。一名67岁的男性在切除皮肤损伤(皮脂腺腺瘤)后被诊断为MTS。他被拒绝接受结肠镜检查和基因检测。随后,在出现缺铁性贫血后,发现晚期结肠癌癌症,尽管手术成功,但最终病情缓解。MTS可在临床诊断为皮脂腺囊肿的皮肤病变中隐性出现。一旦在组织学上怀疑MTS,就需要对MTS相关癌症进行基因检测和筛查。更好地了解MTS的遗传变异有助于早期诊断,从而不排除筛查MTS相关癌症的必要性。
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Looking beyond the surface: Muir Torre syndrome.

Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.

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