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.