X-linked icthyosis. A sulphatase deficiency.
In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity. In all three children the skin showed the same enzyme deficiency. In the skin of 9 other unrelated (adult) patients with proved X-linked inherited ichthyosis vulgaris, arylsulphatase C activity was deficient. Skin from 5 normal adults and 5 normal children showed arylsulphatase C activity to be present. It is concluded that a sulphatase deficiency is a factor in the causation of ichthyosis of the X-linked inherited type.
D000328:Adult; D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics; D004967:Estrogens / Q000652:urine; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology* / Q000235:genetics; D007223:Infant; D008297:Male; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D004967:Estrogens; D013429:Sulfatases; D001192:Arylsulfatases