Elsevier

The Lancet

Volume 311, Issue 8055, 14 January 1978, Pages 70-72
The Lancet

X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

https://doi.org/10.1016/S0140-6736(78)90005-3Get rights and content

Abstract

An assay of cultured skin fibroblasts identified several individuals with 3β-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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