What is X-linked ichthyosis?

General Discussion. 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.

How is X-linked ichthyosis inherited?

The inheritance of X-linked ichthyosis is recessive because if the individual also has a normal STS gene, the condition is not expressed. Females have two X-chromosomes and males have one. A male affected by X-linked ichthyosis passes the ichthyosis gene to his daughters via his X-chromosome.

How do you test for X-linked ichthyosis?

X-linked ichthyosis can be diagnosed by assaying STS activity in the placenta or in the skin fibroblasts, keratinocytes, or lymphocytes of patients after birth. Patients show a deficiency of arylsulfatase C, which can be demonstrated by biochemical testing.

What is meant by X-linked inheritance?

X-linked recessive inheritance is a way a genetic trait or condition can be passed down from parent to child through mutations (changes) in a gene on the X chromosome. In males (who only have one X chromosome), a mutation in the copy of the gene on the single X chromosome causes the condition.

What is the treatment for ichthyosis vulgaris?

Treatments may include: Exfoliating creams and ointments. Prescription creams and ointments containing alpha hydroxy acids, such as lactic acid and glycolic acid, help control scaling and increase skin moisture. Oral medication.

How many types of ichthyosis are there?

There are at least 20 different types of ichthyosis. Some types are inherited at birth and other types are acquired during adulthood.

What triggers ichthyosis?

Ichthyosis vulgaris is commonly caused by a genetic mutation that’s inherited from one or both parents. Children who inherit a defective gene from just one parent have a milder form of the disease. Those who inherit two defective genes have a more severe form of ichthyosis vulgaris.

How long is the average lifespan of a person with ichthyosis?

The prognosis is very poor. Most affected babies do not survive beyond the first week of life. It has been reported that the survival rate varies from 10 months to 25 years with supportive treatment depending on the severity of the condition(8).

What is the best treatment for ichthyosis?