A-Z of syndromes: X-linked ichthyosis
An insight into this genetic disorder occurring in 1 in 6,000 infant males
X-linked ichthyosis, as the name suggests, is the inherited presence of an anomaly carried by the X chromosome. An X-linked recessive trait would occur only in males as they only have a single X chromosome and any anomalies carried by the X chromosome will be expressed. The condition is thought to have an incidence of 1:6,000 and it has been described in all races.
The condition has also been called steroid sulfatase (STS) deficiency, harlequin foetus and collodion baby. Ichthyosis comes from the Greek word for fish scales, which it is said to resemble. Ichthyosis can be life threatening, particularly during the neonatal period, or present as a relatively minor skin condition.
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