Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase.
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.
Camisa
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C
Department of Internal Medicine, Ohio State University, Columbus.
Hessel
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A
Rossana
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C
Parks
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A
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
D005966:Glucuronidase