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Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. EI is caused by changes (mutations) in the KRT1 __ or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.
Source: GARD Last updated on 05-01-20
Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes ( KRT1 or KRT10 ), in people with no family history of EI. However, w hile people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children.
Inherited cases of EI usually have an autosomal dominant inheritance pattern. This means that having a mutation in only one copy of KRT1 or KRT10 in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Typically, EI due to a new mutation will follow autosomal dominant inheritance in subsequent generations.
Very rarely, EI caused by mutations in the KRT10 gene is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
Last updated on 05-01-20
At this time, there is no cure for epidermolytic ichthyosis (EI) and treatment is a challenge. The main goal of therapy is to ease the symptoms. This may be achieved with the following, sometimes in combination:
Antiseptic washes can reduce the risk for bacterial infections so as to avoid frequent antibiotic therapy. When blistering is severe, treatment is focused on wound healing and preventing infection.
Affected newborns with open skin lesions should be transferred to the neonatal ICU to be monitored and treated for infections as needed. They should be handled gently to avoid further trauma to the skin.
The Foundation for Ichthyosis and Related Skin Types (FIRST) has a webpage with "Tools & Tips for Living with Ichthyosis." This page contains links to information about varies strategies for daily living and care.
Last updated on 05-01-20
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