X-linked ichthyosis

X-linked ichthyosis (pronounced: /ˈɪkθiːəsɪs/), is a rare genetic disorder that affects the skin.

Etymology

The term "ichthyosis" is derived from the Greek word "ichthys," which means fish. This is a reference to the scaly skin that is often associated with the condition. The "X-linked" part of the name refers to the fact that the disorder is passed down through the X chromosome.

Definition

X-linked ichthyosis is a condition characterized by widespread and persistent thick, dry, "fish-scale" skin. The severity of the condition can vary widely among those affected. It is caused by a deficiency of the enzyme steroid sulfatase, which is involved in the shedding of old skin cells.

Symptoms

Symptoms of X-linked ichthyosis may include dry, scaly skin, especially on the limbs, and less commonly on the trunk. The scales are often dark and usually cover the entire body. Other symptoms may include corneal opacity, cryptorchidism, and a predisposition to testicular cancer.

Causes

X-linked ichthyosis is caused by mutations in the STS gene, which is located on the X chromosome. This gene provides instructions for making an enzyme called steroid sulfatase, which is necessary for the normal shedding of skin cells. When this gene is mutated, it leads to a deficiency of the enzyme, causing the characteristic dry, scaly skin of ichthyosis.

Diagnosis

Diagnosis of X-linked ichthyosis is typically based on the clinical presentation of the skin. Genetic testing can confirm the diagnosis and identify the specific mutation in the STS gene.

Treatment

There is currently no cure for X-linked ichthyosis. Treatment is aimed at managing the symptoms and may include the use of moisturizers and exfoliating creams to help manage the dry, scaly skin.

Related Terms

External links

Medical encyclopedia article on X-linked ichthyosis
Wikipedia's article - X-linked ichthyosis

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X-linked ichthyosis