Stratum corneum lipid abnormalities in ichthyosis. Detection by a new lipid microanalytical method. 1984

B E Brown, and M L Williams, and P M Elias

Although the biochemical diagnosis of the ichthyoses is still in its infancy, the two recessively inherited types, recessive X-linked ichthyosis (RXLI) and nonbullous congenital ichthyosiform erythroderma (CIE), are accompanied by stratum corneum lipid abnormalities. However, in RXLI, cholesterol sulfate accumulates; in CIE, massive quantities of n-alkanes accumulate. The diagnosis of these disorders has required large quantities of scale for sequential, quantitative thin-layer chromatography (TLC). In this study, we sought to confirm the previously described lipid abnormalities with the use of a rapid, recently developed microchromatographic technique that employs silica gel-coated quartz rods and flame ionization detection (Iatroscan). The cholesterol sulfate content of RXLI (n = 5) scale and the n-alkane content of CIE (n = 8) scale were determined by both TLC and the microchromatographic technique. Less than 10 mg of scale and even single punch biopsy specimens sufficed for the microchromatographic technique, whereas more than 50 mg of scale were required for TLC. Since the microchromatographic technique can rapidly detect diagnostic biochemical abnormalities from readily obtainable, small tissue samples, this method could eventually supplant or supplement standard lipid biochemical techniques for the diagnosis of cutaneous lipidoses.

UI MeSH Term Description Entries
D007057 Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. Xeroderma,Ichthyoses,Xerodermas
D008832 Microchemistry The development and use of techniques and equipment to study or perform chemical reactions, with small quantities of materials, frequently less than a milligram or a milliliter.
D002788 Cholesterol Esters Fatty acid esters of cholesterol which constitute about two-thirds of the cholesterol in the plasma. The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. Cholesterol Ester,Cholesteryl Ester,Cholesteryl Esters,Ester, Cholesterol,Ester, Cholesteryl,Esters, Cholesterol,Esters, Cholesteryl
D002855 Chromatography, Thin Layer Chromatography on thin layers of adsorbents rather than in columns. The adsorbent can be alumina, silica gel, silicates, charcoals, or cellulose. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed) Chromatography, Thin-Layer,Thin Layer Chromatography,Chromatographies, Thin Layer,Chromatographies, Thin-Layer,Thin Layer Chromatographies,Thin-Layer Chromatographies,Thin-Layer Chromatography
D005410 Flame Ionization Pyrolysis of organic compounds at the temperature of a hydrogen-air flame to produce ionic intermediates which can be collected and the resulting ion current measured by gas chromatography. Flame Ionizations,Ionization, Flame,Ionizations, Flame
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000473 Alkanes The generic name for the group of aliphatic hydrocarbons Cn-H2n+2. They are denoted by the suffix -ane. (Grant & Hackh's Chemical Dictionary, 5th ed) Alkane
D012867 Skin The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D050356 Lipid Metabolism Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS. Metabolism, Lipid

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