Abstract
X-linked ichthyosis (XLI) is after ichthyosis vulgaris (IV) the most frequent occurring genetic skin scaling disease (1 in 6,000). The disorder results from steroid sulfatase deficiency due to defects in the STS gene. Most patients (90%) have a genomic deletion encompassing the entire gene. Clinical distinction between XLI and IV may be difficult. Moreover, the incidence of FLG mutations causal to IV is high (5%) and therefore co-inheritance with STS mutations may occur, modifying the phenotype.
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