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. 1978 Jan 14;1(8055):70-2.
doi: 10.1016/s0140-6736(78)90005-3.

X-linked ichthyosis due to steroid-sulphatase deficiency

D Webster, J T France, L J Shapiro, R Weiss

X-linked ichthyosis due to steroid-sulphatase deficiency

D Webster et al. Lancet. .

Abstract

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.

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