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Sex‐linked ichthyosis and placental sulphatase C deficiency
Author(s) -
GROOT W.P.,
JOBSIS A.C.,
MARINKOVICILSEN A.,
KOPPE J.G.,
BRUIJN H.W.A.
Publication year - 1980
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1980.tb15840.x
Subject(s) - ichthyosis , steroid sulfatase , endocrinology , medicine , congenital ichthyosis , epidermis (zoology) , lamellar ichthyosis , chondrodysplasia punctata , ichthyosis vulgaris , biology , steroid , dermatology , pathology , anatomy , hormone , filaggrin , atopic dermatitis
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.