单纯大疱性表皮松解
大疱性表皮松解症
角蛋白14
医学
皮肤病科
疤痕
病理
基因
遗传学
生物
转基因
转基因小鼠
作者
Azzam Alkhalifah,C. Chiavérini,A. Charlesworth,Cristina Has,J.‐P. Lacour
摘要
Abstract Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT 5 and KRT 14 underlie the majority of reported cases. Mutations in KLHL 24 , a gene that encodes KLHL 24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL 24 ‐related epidermolysis bullosa simplex and highlight the burn‐like pattern of scars.
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