X-linked Ichthyosis (XLI)

In this episode, we explore X-linked ichthyosis (XLI) as more than a skin disorder, focusing on its genetic basis in STSloss on Xp22.3. We explain how disrupted cholesterol sulfate metabolism causes the characteristic scaling, and how larger deletions can affect neighboring genes, leading to short stature, hypogonadism, skeletal changes, and neurodevelopmental traits such as ADHD and autism features. We highlight the often-overlooked impact on female carriers, including ocular findings, postpartum psychiatric risk, and prolonged labor. Finally, we discuss modern MLPA diagnostics and emerging treatments that target the underlying metabolic defect rather than symptoms alone.