Aniruddh Heroor, Vijitha S Vempuluru, Saumya Jakati, Swathi Kaliki
{"title":"Aggressive Sebaceous Gland Hyperplasia in a Young Girl With MSH2 Gene Mutation: A Rare Presentation.","authors":"Aniruddh Heroor, Vijitha S Vempuluru, Saumya Jakati, Swathi Kaliki","doi":"10.1097/IOP.0000000000002830","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19588,"journal":{"name":"Ophthalmic Plastic and Reconstructive Surgery","volume":" ","pages":"e58-e59"},"PeriodicalIF":1.2000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Plastic and Reconstructive Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/IOP.0000000000002830","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/9 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.