Sex-linked ichthyosis and placental sulphatase C deficiency.
Ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demonstrated histochemically either in the epidermis of these boys, or in the epidermis of adults with sex-linked ichthyosis, whilst it was present in normal controls. In cultured skin fibroblasts steroid-sulphatase activity was extremely low. We conclude that deficiency of steroid sulphatase C or arylsulphatase C or a third functionally linked enzyme is an important factor in the pathogenesis of sex-linked ichthyosis.
D000328:Adult; D001192:Arylsulfatases / Q000172:deficiency; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000201:enzymology; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D013429:Sulfatases; D001192:Arylsulfatases