title: Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase.
abstract: Five patients in a large pedigree with autosomal dominant palmoplantar keratoderma and/or an ichthyosiform dermatosis were studied. Biopsies of the keratoderma, a remote hyperkeratotic plaque on an arm and the ichthyosis all revealed the same histopathologic changes including hyperkeratosis with round retained nuclei. All 5 patients had elevated serum beta-glucuronidase activity. The significance of beta-glucuronidase in this and other skin diseases is discussed.
authors.affiliation: Department of Internal Medicine, Ohio State University, Columbus.
authors.forename: C
authors.initials: C
authors.lastname: Camisa
authors.forename: A
authors.initials: A
authors.lastname: Hessel
authors.forename: C
authors.initials: C
authors.lastname: Rossana
authors.forename: A
authors.initials: A
authors.lastname: Parks
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005966:Glucuronidase / Q000097:blood* / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D010375:Pedigree
chemical_list: D005966:Glucuronidase