The term X-linked Ichthyosis is used for a genetic disorder, which is also referred to as Steroid sulfatase deficiency,"" and ""X-linked recessive ichthyosis. One of the most common symptoms in this case would be the scaling of the skin, which is quite prominent. The underlying skin can also be quite dark and grey in color, which can also have alternate colors.
HOW IS X-LINKED ICHTHYOSIS DIAGNOSED?
XLI can be suspected based on clinical findings, although symptoms can take varying amounts of time to become evident, from a few hours after birth, up to a year in milder cases. The diagnosis is usually made by a dermatologist, who also typically formulates the treatment plan (see below). STS enzyme deficiency is confirmed using a clinically available biochemical assay. However, the use of prenatal diagnosis for genetic conditions that are considered to be generally benign raises serious ethical considerations and requires detailed genetic counseling.
HOW IS X-LINKED ICHTHYOSIS TREATED?
X-linked ichthyosis is treated by applying skin softening creams and lotions. This can be especially effective after bathing while the skin is still moist. X-linked ichthyosis responds relatively well to topical treatment with alpha-hydroxy acids, which accelerate the shedding of the dead skin cells. Cholesterol containing emollients may also improve the scaling. Alpha-hydroxy acids may sting the skin of babies and young children and should be used cautiously or in combination with another mild emollient product.
DID YOU KNOW?
The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may subside during the summer.