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GlossaryX-linked ichthyosis (STS deficiency)

genetic skin disorder causing dry, scaly skin in males

X-linked ichthyosis, also known as steroid sulfatase deficiency, is a genetic skin disorder that primarily affects males. It is caused by mutations in the STS gene on the X chromosome, leading to a deficiency in the enzyme steroid sulfatase. This results in the accumulation of cholesterol sulfate in the skin, causing dry, scaly skin that often appears at birth or within the first year of life.

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Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature

research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature

7 citations , March 2012 in “European Journal of Pediatrics”

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

41 citations , March 2016 in “The Journal of Clinical Endocrinology & Metabolism”

In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.

research Roles of Steroid Sulfatase in Brain and Other Tissues

22 citations , January 2008 in “Physiological Research”

Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.

Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency

research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency

13 citations , September 2011 in “Archives of dermatology”

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition

451 citations , March 2005 in “Endocrine Reviews”

The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.

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