STEROID-SULFATASE DEFICIENCY IN SEX-LINKED ICHTHYOSIS

  • 1 January 1979
    • journal article
    • research article
    • Vol. 31 (1), 50-53
Abstract
Steroid-sulfatase activity was absent in the cultured fibroblasts of 9 affected members of 8 families with sex-linked ichthyosis. An intermediate value of enzyme activity was found in an obligate heterozygote and a normal value in a patient with ichthyosis vulgaris. Cultured epidermal cells of an affected individual also had enzyme activity, while normal cultured epidermal cells did.