Recessive X-linked Ichthyosis

📋Overview

This hereditary disorder is caused by mutations or deletions in the STS gene, which leads to a deficiency of the steroid sulfatase enzyme. This deficiency impairs the skin's ability to shed dead cells, resulting in the development of visible scales.

The condition follows an X-linked recessive inheritance pattern and primarily affects males, while females typically act as carriers. It is often identified by the appearance of dark, adherent scales on the trunk and extremities, which may be present at birth or develop during early infancy.