Sex-linked ichthyosis and placental sulphatase C deficiency

Ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demons...

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Bibliographic Details
Published inBritish journal of dermatology (1951) Vol. 103; no. 1; p. 73
Main Authors de Groot, W P, Jobsis, A C, Marinkovic-Ilsen, A, Koppe, J G, de Bruijn, H W
Format Journal Article
LanguageEnglish
Published England 01.07.1980
Subjects
Adult
Arylsulfatases - deficiency
Female
Humans
Ichthyosis - enzymology
Ichthyosis - genetics
Infant, Newborn
Male
Placenta - enzymology
Pregnancy
Sex Chromosome Aberrations
Skin - enzymology
Sulfatases - deficiency
X Chromosome
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Summary:Ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demonstrated histochemically either in the epidermis of these boys, or in the epidermis of adults with sex-linked ichthyosis, whilst it was present in normal controls. In cultured skin fibroblasts steroid-sulphatase activity was extremely low. We conclude that deficiency of steroid sulphatase C or arylsulphatase C or a third functionally linked enzyme is an important factor in the pathogenesis of sex-linked ichthyosis.
ISSN:0007-0963
DOI:10.1111/j.1365-2133.1980.tb15840.x