title: Enzymatic distinction between two subgroups of autosomal recessive lamellar ichthyosis.
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.
authors.affiliation: Department of Dermatology, University Hospital, Nijmegen, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Bergers
authors.forename: H
authors.initials: H
authors.lastname: Traupe
authors.forename: S C
authors.initials: SC
authors.lastname: Dünnwald
authors.forename: P D
authors.initials: PD
authors.lastname: Mier
authors.forename: R
authors.initials: R
authors.lastname: van Dooren-Greebe
authors.forename: P
authors.initials: P
authors.lastname: Steijlen
authors.forename: R
authors.initials: R
authors.lastname: Happle
mesh_terms: D000293:Adolescent; D000328:Adult; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000378:metabolism*; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D005959:Glucosidases / Q000378:metabolism*; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology* / Q000235:genetics; D008297:Male; D010740:Phospholipases / Q000378:metabolism*; D010741:Phospholipases A / Q000378:metabolism*; D012867:Skin / Q000201:enzymology; D001617:beta-Glucosidase / Q000378:metabolism*
chemical_list: D010740:Phospholipases; D002265:Carboxylic Ester Hydrolases; C063418:long-chain carboxylesterase; D043182:Carboxylesterase; D010741:Phospholipases A; D005959:Glucosidases; D001617:beta-Glucosidase