X-linked ichthyosis due to steroid-sulphatase deficiency.
An assay of cultured skin fibroblasts identified several individuals with 3 beta-hydroxysteroid-sulphate sulphatase deficiency. All patients with this inborn error of metabolism had clinically apparent ichthyosis and a family history of this skin disorder compatible with X-linked inheritance. It is concluded that steroid-sulphatase deficiency is the bio-chemical basis of at least some cases of X-linked ichthyosis.
D000328:Adult; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006914:Hydroxysteroids; D007057:Ichthyosis / Q000209:etiology* / Q000235:genetics; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D006914:Hydroxysteroids; D013429:Sulfatases