X-linked icthyosis. A sulphatase deficiency.

Abstract

SUMMARY 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.

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

“…RXLI is caused by null mutations in the gene encoding the microsomal enzyme, steroid sulfatase (SSase) (122,123). Because of its location on the distal tip of the short arm of the X chromosome (124)(125)(126)(127)(128), the SSase gene has been the subject of considerable research.…”

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

“…More recently, the enzyme has also been founid to be lacking in stratumn corneum (4), hair bulbs (4), cultured keratinocytes (5), and leukocytes (6). Since deficiency of fibroblast steroid sulfatase has now been confirmed in a large number of patients from many parts of the world (7,8), Shapiro has proposed that RXLI is due to absence ofthis enzyme. However, direct evidence for a link between steroid sulfatase deficiency and the pathogenesis of RXLI is still lacking.…”

Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.

“…Previously characterized by inheritance pattern and clinical presentation (1), this disorder can now be diagnosed biochemically because of the recent discovery that patients with RXLI lack the enzyme steroid sulfatase (2,3). Presumably, as a consequence of steroid sulfatase deficiency in skin and other tissues (4)(5)(6), one substrate, cholesterol sulfate, accumulates in red blood cells (7), serum (7,8), and stratum corneum (9).…”