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在患有与SREBF1突变相关的遗传性粘膜皮质发育不良的婴儿中出现复发性血管化角膜炎

Seonghwan Kim¹, Hyunchul Jeong¹, Jung Min Ko²

¹Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

|September 12, 2023

概括

婴儿的遗传性粘膜形症 (HMD) 可以导致严重的眼睛问题,如血管化角膜炎和头皮脱发. 对SREBF1突变的基因测试对于早期诊断和管理至关重要.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
皮肤病学皮肤病学

背景情况:

遗传性粘膜皮质质变形症 (HMD) 是一种罕见的遗传性疾病.
眼科和皮肤病的表现可能是严重的,并在生命的早期出现.

研究的目的:

描述两个患有SREBF1基因突变的婴儿中HMD的眼科表现.
突出5年期间的临床过程和诊断方法.

主要方法:

对两名女性婴儿进行评估,这些婴儿患有光恐惧症和脱发症.
在麻醉下进行全面的眼科检查,基因分析 (全外体测序) 和系统性检查.
发现了一种致病性SREBF1变种 (c.1669C>T,p.Arg557Cys).

主要成果:

两位患者都患有双边血管化角膜炎,带有状白血病性不透明.
角质炎对皮质类固醇有部分反应,但在5年内波动.
观察到周期性脱发导致扩散的头皮脱发;系统评估正常.

结论:

在患有复发性血管化角膜炎和早期发育脱发症的儿科病例中应考虑HMD.
建议对SREBF1突变进行基因检测.
涉及眼科医生,皮肤科医生和儿科医生的多学科合作对于诊断至关重要.

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