X-linked ichthyosis due to steroid-sulphatase deficiency
LJ Shapiro, R Weiss, D Webster, JT France - The Lancet, 1978 - Elsevier
LJ Shapiro, R Weiss, D Webster, JT France
The Lancet, 1978•ElsevierAn 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.
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.
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.
Elsevier