Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases.
A detailed clinical study of 76 males with steroid sulphatase deficiency confirmed the ichthyosis of this disorder to be identical with the classical descriptions of recessive X-linked ichthyosis. The appearance of regular ichthyotic scaling seems in most instances to be heralded by a general peeling of the skin. This characteristic feature was registered between age 1 and 3 weeks in 19 of 21 young boys followed due to a placental steroid sulphatase deficiency. Later on, polygonal scales giving a 'dirty' appearance were most pronounced on the distal parts of the body and extensor aspects of the extremities. The ichthyosis aggravates through childhood into adult age.
Høyer
H
H
Lykkesfeldt
G
G
Ibsen
H H
HH
Brandrup
F
F
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000473:pathology; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; C038087:steroid 21-sulfatase