Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis

Abstract
Patients with ichthyosis were classified as either ichthyosis vulgaris (IV) (5 cases) or recessive X-linked icthyosis (RXLI) (16 cases) by using a steroid sulfatase assay of plantar callus and peripheral leukocytes. The patients had presented with various clinical manifestations, which had resulted in some initial misdiagnoses. Cases which initially resemble IV may in fact be RXLI, although if a case is initially diagnosed as RXLI it is unlikely to be a case of IV.