Epidermolytic ichthyosis

How is epidermolytic ichthyosis inherited?

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:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier.

Last updated on 05-01-20

How might epidermolytic ichthyosis be treated?

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:

  • Topical keratolytics (medications which help shed outer layers of skin) - examples include lactic acid, alpha-hydroxy acid, or urea.
  • Topical emollients (products that soften the skin)
  • Topical retinoids or oral retinoids - these can significantly improve symptoms, but care must be taken to avoid causing increased skin fragility.

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

Name: Foundation for Ichthyosis and Related Skin Types FIRST 2616 North Broad Street
Colmar, PA, 18915 , United States
Phone: +1-215-997-9400 Toll Free: 1-800-545-3286 Email: info@firstskinfoundation.org Url: http://www.firstskinfoundation.org/
Name: Genetic Skin Disease Center Stanford Medical Dermatology Clinic Stanford Medicine Outpatient Center
450 Broadway Pavilion B, 4th Floor
Redwood City, CA, 94063, United States
Phone: 650-723-6316 Fax : 650-725-7711 Url: http://dermatology.stanford.edu/contact/

Connect with other users with Epidermolytic ichthyosis on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App