Enzymatic distinction between two subgroups of autosomal recessive lamellar ichthyosis |
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Authors: | M Bergers H Traupe S C Dünnwald P D Mier R van Dooren-Greebe P Steijlen R Happle |
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Affiliation: | Department of Dermatology, University Hospital, Nijmegen, The Netherlands. |
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Abstract: | It has been proposed that the autosomal recessive lamellar ichthyoses may be divided into two subgroups, the erythrodermic (EARLI) and non-erythrodermic (NEARLI) forms. We report measurements of the enzymes beta-glucosidase, a recently described phosholipase, a short-chain carboxylesterase ("butyrase"), and a long-chain carboxylesterase ("palmitase") in aqueous extracts of scales from patients diagnosed according to clinical and micromorphologic criteria, and show that beta-glucosidase and phospholipase tend to be lower in the EARLI group, whereas butyrase is relatively low in the NEARLI group. The internal ratio of either butyrase/glucosidase or butyrase/phospholipase yields a clear separation of the two subgroups, supporting the concept of heterogeneity in this group of diseases. |
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