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具有相同基因型的兄弟姐妹的表型分歧:在婴儿发病的银河状化症中扩散皮肤黑色素细胞病变

Berrak Bilginer Gürbüz¹, Özge Özalp²

¹Department of Pediatric Metabolism, Ankara Yıldırım Beyazıt University Faculty of Medicine, Ankara Bilkent City Hospital, Ankara, Turkey.

Molecular syndromology

|December 18, 2025

概括

扩散皮肤黑色素细胞症可能表明Galactosialidosis (GS),一种超罕见的溶酶体储存障碍. 这一案例凸显了皮肤发现和基因查对于早期诊断和了解疾病变异性的重要性.

科学领域:

遗传学是一个遗传学.
生物化学生物化学
皮肤病学皮肤病学

背景情况:

Galactosialidosis (GS) 是一种极为罕见的自体逆性溶酶体储存障碍.
在CTSA基因的致病变异导致GS,导致保护性蛋白质/甲素A的缺乏.
这种缺陷导致β-galactosidase和α-neuraminidase活性降低,导致多系统效应.

研究的目的:

报告一个带有不寻常皮肤表现的Galactosialidosis病例.
调查扩散皮肤黑色素细胞症作为GS诊断标记物的潜力.
要突出GS的家族内表型变异性.

主要方法:

一个9个月大的女孩的临床病例呈现,患有肝积病和扩散皮肤黑色素细胞病.
酶活性测试测量测量β-银酸酶水平.
基因检测用于识别CTSA基因变异.
对已识别的变种进行家庭查.

主要成果:

这位患者呈现出肝积病,扩散皮肤黑色素细胞病,胎儿水,先天性白内障,发育迟缓和骨异常.
酶试验显示,β-galactosidase活性显著降低.
基因检测显示出一种同卵性可能致病的CTSA变体 (c.359T>C).
患者的兄弟,具有相同的基因型,表现出较轻的症状,没有皮肤或器官的参与.

结论:

扩散皮肤黑色素细胞症可能作为一种新的皮肤标志物,用于早期识别Galactosialidosis.
在GS中存在显著的家族内表型变异,尽管具有相同的基因型.
皮肤病学发现对于溶酶体储存障碍的诊断工作至关重要.
建议进行基于家庭的遗传查,以确定受影响的个体.

关键词:

皮肤的黑色素细胞症.在 Galactosialidosis 中使用.有机巨型性有机巨型性

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