双侧剑伤样硬斑病伴双侧眼部受累及听力损失：一例罕见病例报告并文献复习。

文献信息

中文摘要

目的： 剑伤样硬斑病（ECDS）是线性硬斑病的一种罕见颅面变异型，以额顶皮肤呈带状硬化、形似剑击为特征。双侧受累极为罕见，同时合并双侧眼部表现及混合性听力损失（感音神经性和传导性）此前尚未见描述。
方法： 我们报告一例双侧ECDS，表现为双侧眶周受累，包括睫毛脱落和附件皮肤萎缩，并伴有双侧听力损失和视网膜缺血导致广泛新生血管形成。
结果： 本文对线性硬斑病和ECDS中已报告的眼部表现进行了结构化综述。双侧ECDS中同时出现双侧眼附属器受累、视网膜缺血导致牵拉性视网膜脱离（TRD）、继发性Coats样特征以及双侧混合性听力损失，是一种此前未报告的联合表现，拓宽了该疾病的表型谱。
结论： 本病例强调了对所有ECDS患者，尤其是双侧或广泛颅面疾病患者，进行全面的眼科和听力学监测的必要性。

英文摘要

PURPOSE: En coup de sabre (ECDS) is a rare craniofacial variant of linear scleroderma characterized by a band-like induration of the frontoparietal skin resembling the strike of a sabre. Bilateral involvement is exceptionally rare, and concurrent bilateral ophthalmic manifestations with mixed hearing loss (sensorineural and conductive) have not been previously described.
METHOD: We report a case of bilateral ECDS presenting with bilateral periorbital involvement including madarosis and adnexal skin atrophy, along with bilateral hearing loss and retinal ischemia resulting in extensive neovascularization.
RESULT: A structured review of reported ophthalmic manifestations in linear scleroderma and ECDS is presented. The simultaneous occurrence of bilateral ocular adnexal involvement, retinal ischemia causing tractional retinal detachment (TRD), secondary Coats-like features, and bilateral mixed hearing loss in bilateral ECDS is a previously unreported combination that widens the phenotypic spectrum of this condition.
CONCLUSION: This case underscores the need for comprehensive ophthalmic and audiological surveillance in all patients with ECDS, particularly those with bilateral or extensive craniofacial disease.