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鱼鳞病中通透性屏障异常的发病机制:脂质代谢的遗传性疾病。

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

作者信息

Elias Peter M, Williams Mary L, Holleran Walter M, Jiang Yan J, Schmuth Matthias

机构信息

Dermatology Services, Veterans Affairs Medical Center, University of California, San Francisco, CA, USA.

出版信息

J Lipid Res. 2008 Apr;49(4):697-714. doi: 10.1194/jlr.R800002-JLR200. Epub 2008 Feb 2.

Abstract

Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions. In most of these disorders, a permeability barrier abnormality "drives" pathophysiology through stimulation of epidermal hyperplasia. Among primary abnormalities of nonpolar lipid metabolism, triglyceride accumulation in neutral lipid storage disease as a result of a lipase mutation provokes a barrier abnormality via lamellar/nonlamellar phase separation within the extracellular matrix of the stratum corneum (SC). Similar mechanisms account for the barrier abnormalities (and subsequent ichthyosis) in inherited disorders of polar lipid metabolism. For example, in recessive X-linked ichthyosis (RXLI), cholesterol sulfate (CSO(4)) accumulation also produces a permeability barrier defect through lamellar/nonlamellar phase separation. However, in RXLI, the desquamation abnormality is in part attributable to the plurifunctional roles of CSO(4) as a regulator of both epidermal differentiation and corneodesmosome degradation. Phase separation also occurs in type II Gaucher disease (GD; from accumulation of glucosylceramides as a result of to beta-glucocerebrosidase deficiency). Finally, failure to assemble both lipids and desquamatory enzymes into nascent epidermal lamellar bodies (LBs) accounts for both the permeability barrier and desquamation abnormalities in Harlequin ichthyosis (HI). The barrier abnormality provokes the clinical phenotype in these disorders not only by stimulating epidermal proliferation, but also by inducing inflammation.

摘要

许多鱼鳞病与遗传性脂质代谢紊乱有关。这些紊乱为剖析正常表皮的生理过程以及更常见的脱屑病症的病理生理学提供了独特的模型。在大多数这些紊乱中,通透性屏障异常通过刺激表皮增生“驱动”病理生理学。在非极性脂质代谢的原发性异常中,由于脂肪酶突变导致的中性脂质贮积病中甘油三酯的积累,通过角质层(SC)细胞外基质内的片层/非片层相分离引发屏障异常。类似的机制也解释了遗传性极性脂质代谢紊乱中的屏障异常(以及随后的鱼鳞病)。例如,在隐性X连锁鱼鳞病(RXLI)中,硫酸胆固醇(CSO₄)的积累也通过片层/非片层相分离产生通透性屏障缺陷。然而,在RXLI中,脱屑异常部分归因于CSO₄作为表皮分化和角质桥粒降解调节剂的多效性功能。II型戈谢病(GD;由于β-葡萄糖脑苷脂酶缺乏导致葡糖神经酰胺积累)中也会发生相分离。最后,在丑角鱼鳞病(HI)中,脂质和脱屑酶未能组装到新生的表皮板层小体(LB)中,这解释了通透性屏障和脱屑异常。屏障异常不仅通过刺激表皮增殖,还通过诱导炎症引发这些疾病的临床表型。

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