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KMID : 0984920150170020023
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Journal of Skin Barrier Research
2015 Volume.17 No. 2 p.23 ~ p.35
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Pathogenesis of Inherited Disorder of Impaired Barrier Function: Association with Lipid Metabolism
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Lee Sang-Eun
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Abstract
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Ichthyosis is a rare disorder of cornification, a large portion of which is mostly associated with inherited disorders of lipid metabolism. In the disease-developing process, permeability barrier abnormality which had been caused by impaired lipid profile of skin results in compensative epidermal hyperplasia, a characteristic skin manifestation of the disease. Among abnormalities of polar lipid metabolism and subsequent ichthyosis, though the causative genes and downward pathways were known in many but not all instance, similar mechanism that accounts for the barrier abnormalities are shared. In recessive X-linked ichthyosis(RXLI), cholesterol sulfate(CSO4) accumulation, followed by lamellar/nonlamellar phase separation and impairment of permeability barrier function plays a crucial role in pathogenesis of the disease. In type II Gaucher disease(GD), by accumulation of glucosylceramides results from β-glucocerebrosiderase deficiency, phase separation occurs. In Harlequin ichthyosis(HI), defect in the process of assembling both lipids and desquamatory enzymes into epidermal lamellar body(LB) accounts for abnormalities of both permeability and desquamation. Autosomal recessive congenital ichthyosis(ARCI) is a group of desquamatory skin disorder and associated ichthyn gene mutation, and consistent intra-cellular lipid accumulation in the granular and cornified layers. As well as the barrier abnormalities result from these mechanism, inflammation is responsible for typical clinical phenotypes of these disorders.
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KEYWORD
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Barrier, Ichthyosis, Lipid
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