双胞胎兄弟患有APECED综合征的复发性广泛皮肤植物病
Aysha Najeeb1, Vishal Gaurav1, Pankhuri Dudani1
1Department of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, India.
Pediatric dermatology
|September 10, 2024
概括
两名兄弟患有自身免疫性多胞体病变,角膜炎和外皮缩 (APECED) 综合征,呈现出广泛的皮肤植物病. 这种罕见的自身免疫性疾病突出显示了各种各样的临床表现,甚至在同卵双胞胎中.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 慢性粘膜皮质候群病 (CMC) 涉及反复发生的Candida感染,通常与原发性免疫缺陷有关.
- 自身免疫性多胞膜病变,候群病和外皮缩症候群 (APECED) 是一种罕见的自身免疫性疾病.
- AIRE基因突变是APECED综合征的主要原因.
研究的目的:
- 在APECED综合征中报告一种广泛皮肤植物病的新型表现.
- 为了研究单胞胎双胞胎中APECED综合征的遗传基础.
- 为了突出APECED综合征的临床变异性.
主要方法:
- 临床病例报告两个8岁的单胞胎双胞胎兄弟.
- 基因分析以确定AIRE基因中的突变.
- 评估临床表现,包括皮肤,指甲,胃肠道和牙健康.
主要成果:
- 双胞胎被诊断出患有APECED综合征,原因是AIRE基因中的同卵性p.M1V突变.
- 两个双胞胎都出现了广泛的皮肤植物病 (皮肤和指甲感染),这是APECED中以前未经记录的表现.
- 其他症状包括吸收不良,牙腐烂和其他自身免疫性疾病.
结论:
- 广泛的皮肤植物病可能是APECED综合征的表现特征.
- 这一案例强调了APECED综合征的显著临床变异性,即使在同卵双胞胎中也是如此.
- 对AIRE基因的基因分析对于诊断APECED综合征至关重要.
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