Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases  

作　　者：Xi Chen Wei-Xuan Zeng Bao-Ying Duan Yan-Yan Lin Jia Liu Zong-Duan Zhang 

机构地区：[1]Eye Hospital and School of Ophthalmology and Optometry,Wenzhou Medical University,Wenzhou 325027,Zhejiang Province,China [2]Aier Eye Hospital,Kunming 650000,Yunnan Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2022年第7期1062-1070,共9页国际眼科杂志（英文版）

基　　金：Supported by Zhejiang Provincial Natural Science Foundation of China (No.LY19H120005)。

摘　　要：AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations.CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.

关 键 词：ectodermal dysplasia ECTROPION full-thickness skin graft whole-exome sequencing 

分 类 号：R779.6[医药卫生—眼科]