医学
错义突变
增生
组织病理学
眼睑
病理
MSH2
免疫抑制
病变
皮脂腺
皮肤病科
突变
内科学
基因
DNA错配修复
外科
癌症
遗传学
生物
结直肠癌
作者
Aniruddh Heroor,Vijitha S. Vempuluru,Saumya Jakati,Swathi Kaliki
标识
DOI:10.1097/iop.0000000000002830
摘要
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, we 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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