Biochemical Abnormalities

There are a large number of diseases that can affect epidermal barrier function, and it is beyond the scope of this chapter to consider any of these in great depth. Some of the diseases affect the formation of the corneocyte (''broken brick syndrome'') whereas other affect the intercellular lipid (''weak mortar syndrome''). For instance, Nemes and Steinhardt (66) refer to more than ten different diseases involving genes that encode keratin intermediate filaments, including Unna-Thost disease and tylosis. Other genetic diseases are related to defects in the genes associated with the structural proteins of the cornified envelope or transglutaminases. For instance, a genetic defect in TGM1, the gene that encodes the transglutaminase I enzyme, leads to a life-threatening disease: lamellar ichthyosis (66).

A reduction of the effective intercellular lipid barrier properties can lead to deficiencies ranging from dry skin (depletion of lipids owing to excessive use of detergents), to hyperproliferation and abnormal scaling. Causes include essential fatty acid deficiency, abnormal intercellular deposition of various lipids, accumulation of

Abnormalities Shapes Lipids

Figure 12 Creation of free space (free volume) in the intercellular lipid lamellae of the stratum corneum allows a greater mobility of the hydrocarbon chains that may result in enhanced diffusivity. This could be induced by enhancer shape [e.g., oleic acid and lauroca-pram (Azone)] or by electrostatic headgroup interactions.

Figure 12 Creation of free space (free volume) in the intercellular lipid lamellae of the stratum corneum allows a greater mobility of the hydrocarbon chains that may result in enhanced diffusivity. This could be induced by enhancer shape [e.g., oleic acid and lauroca-pram (Azone)] or by electrostatic headgroup interactions.

cholesterol sulfate in X-linked ichthyosis, genetic defects of lipid metabolism (e.g., Refsum's disease and Sjogren-Larsson syndrome resulting from phytanoyl-CoA hy-droxylase and fatty aldehyde deficiencies, respectively).

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