鱼鳞病
甾体硫酸酯酶
医学
板层鱼鳞病
寻常鱼鳞病
先天性鱼鳞病
病态的
皮肤病科
疾病
丝状蛋白
产前诊断
角化过度
遗传学
鉴别诊断
病理
内科学
生物
特应性皮炎
怀孕
类固醇
胎儿
激素
作者
Bin Zhou,Chaoyang Liang,Peiyao Li,Heng Xiao
摘要
Abstract X‐linked recessive ichthyosis (XLI) is a hereditary skin disease characterized by generalized dryness and scaling of the skin, with frequent extracutaneous manifestations. It is the second most common type of ichthyosis, with a prevalence of 1/6,000 to 1/2,000 in males and without any racial or geographical differences. The causative gene for XLI is the steroid sulfatase gene ( STS ), located on Xp22.3. STS deficiency causes an abnormal cholesterol sulfate (CS) accumulation in the stratum corneum (SC). Excess CS induces epidermal permeability barrier dysfunction and scaling abnormalities. This review summarizes XLI's genetic, clinical, and pathological features, pathogenesis, diagnosis and differential diagnoses, and therapeutic perspectives. Further understanding the role of the STS gene pathogenic variants in XLI may contribute to a more accurate and efficient clinical diagnosis of XLI and provide novel strategies for its treatment and prenatal diagnosis.
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