Guarrera Julia, Prezzano James C, Mannava Kathleen A
Norton College of Medicine, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Fayetteville Dermatology, Fayetteville, NY 13066, USA.
Dermatopathology (Basel). 2024 Mar 4;11(1):124-128. doi: 10.3390/dermatopathology11010011.
This case report describes a case of a patient with MUTYH-associated polyposis (MAP), who presented with multiple sebaceomas in a Muir-Torre-like phenotype. MAP is caused by mutations in MUTYH, a base excision repair gene responsible for detecting and repairing the 8-oxo-G:A transversion caused by reactive oxygen species. MAP is associated with an increased risk of developing adenomatous polyps and colorectal cancer. Muir-Torre syndrome is a clinical phenotype of Lynch syndrome, which presents with multiple cutaneous sebaceous neoplasms. Lynch syndrome, like MAP, increases the likelihood of developing colorectal cancer but with a different pathogenesis and mode of inheritance. This case demonstrates that in a patient presenting with multiple sebaceous neoplasms, further workup and genetic testing may be indicated, not only for Muir-Torre and Lynch syndrome but also for MAP.
本病例报告描述了一名患有MUTYH相关息肉病（MAP）的患者，该患者表现出类似穆尔-托综合征（Muir-Torre）的表型，伴有多发性皮脂腺瘤。MAP由MUTYH基因突变引起，MUTYH是一种碱基切除修复基因，负责检测和修复由活性氧导致的8-氧代鸟嘌呤与腺嘌呤的颠换。MAP与腺瘤性息肉和结直肠癌的发生风险增加相关。穆尔-托综合征是林奇综合征的一种临床表型，表现为多发性皮肤皮脂腺肿瘤。林奇综合征与MAP一样，增加了结直肠癌的发病可能性，但发病机制和遗传方式不同。该病例表明，对于出现多发性皮脂腺肿瘤的患者，可能需要进一步检查和基因检测，不仅是针对穆尔-托综合征和林奇综合征，也针对MAP。
