侵袭性皮脂腺增生的年轻女孩与MSH2基因突变:一个罕见的表现。

IF 1.2 4区 医学 Q3 OPHTHALMOLOGY Ophthalmic Plastic and Reconstructive Surgery Pub Date : 2025-03-01 Epub Date: 2024-12-09 DOI:10.1097/IOP.0000000000002830
Aniruddh Heroor, Vijitha S Vempuluru, Saumya Jakati, Swathi Kaliki
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引用次数: 0

摘要

皮脂腺增生是一种良性皮肤实体,常见于老年男性。偶尔,它可以发生在环孢素免疫抑制的年轻患者或青春期周围年龄组的青春期男孩。在没有眼睑受累报告的幼儿中极为罕见。与与Muir-Torre综合征相关的皮脂腺瘤不同,它被认为与全身无关联。在此,我们提出一个罕见的病例,一个年轻的女孩与复发性和侵袭性眼睑皮脂腺增生谁是由广泛的局部病灶切除治疗。组织病理学显示错配修复蛋白mlh1、MSH2、MSH 6和PMS 2的核表达完整,基因检测显示MSH2基因存在错义突变。
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Aggressive Sebaceous Gland Hyperplasia in a Young Girl With MSH2 Gene Mutation: A Rare Presentation.

Sebaceous gland hyperplasia is a benign cutaneous entity commonly seen in older men. Occasionally, it can develop in young patients on immunosuppression with cyclosporine or in adolescent boys in the peripubertal age group. It is extremely rare in young children with no reports of eyelid involvement. It is believed to have no systemic associations, unlike sebaceous adenoma, which is associated with Muir-Torre syndrome. Herein, the authors present a rare case of a young girl with recurrent and aggressive eyelid sebaceous hyperplasia who was treated by a wide local excision of the lesion. The histopathology showed intact nuclear expression of mismatch repair proteins MLH 1, MSH 2, MSH 6, and PMS 2, and the genetic testing revealed a missense mutation in the MSH2 gene.

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来源期刊
CiteScore
2.50
自引率
10.00%
发文量
322
审稿时长
3-8 weeks
期刊介绍: Ophthalmic Plastic and Reconstructive Surgery features original articles and reviews on topics such as ptosis, eyelid reconstruction, orbital diagnosis and surgery, lacrimal problems, and eyelid malposition. Update reports on diagnostic techniques, surgical equipment and instrumentation, and medical therapies are included, as well as detailed analyses of recent research findings and their clinical applications.
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