X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate plays a role in maintaining the integrity of the skin. If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more strongly than usual. The normal shedding of dead skin cells is inhibited and the skin cells build up and clump into scales.
HOW IS X-LINKED ICHTHYOSIS DIAGNOSED?
Diagnosis of the X-linked Ichthyosis is done through genetic testing and also doing a skin examination.
HOW IS X-LINKED ICHTHYOSIS TREATED?
There is actually no possible cure or treatment available for this problem but it is possible to manage the same using procedures like Keratolytic agents namely Ammonium lactate (Lac-Hydrin). These are quite useful in facilitating the release of retained corneocytes. Apart from this topical isotretinoin are also used here.
DID YOU KNOW?
Approximately 50% of adult males and some female carriers will have asymptomatic comma-shaped corneal opacities (cloudy spots), which do not affect sight. Female carriers of X-linked ichthyosis occasionally report dry skin problems and, rarely, shadows of scales on the skin.