Epidermolytic ichthyosis is a rare genetic skin disorder that becomes visible shortly after birth. The person with this disorder usually experiences reddening, scaling, and severe blistering of the skin. Hyperkeratosis or thickening of the skin develops within months and worsens over time.
Skin can be itchy and smelly, and prone to infection. However, symptoms vary from person to person. Affected babies may have very red skin (erythroderma) and severe blisters. For babies, having this condition increases their risk of becoming dehydrated and developing infections in the skin or throughout the body.
As affected individuals mature, blistering becomes less frequent, and the skin becomes thick especially over joints or areas of the skin that come into contact with each other, or on the neck or scalp. When the skin thickens, it becomes dark and bacteria can grow on it, causing a distinct odor.
Many cases of EI are sporadic, meaning they result from a new mutation in one of the responsible genes in people with no family history of EI. However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children.
A genetic or rare disease can often be challenging to diagnose. Doctors typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis and testing for EI.
The following resources provide information relating to diagnosis and testing for this condition. However, it is always imperative to check with your doctor first.
The Genetic Testing Registry (GTR)
This provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers need to contact a health care provider or a genetics professional for more info or specific questions about a genetic test.
Orphanet lists international laboratories offering diagnostic testing for this condition.
There is no cure for IE at this time and treatment is actually a challenge. The main goal for this condition is to keep the symptoms at bay and this may be achieved with the following medications or sometimes in combination:
- Topical keratolytics (lactic acid, alphahydroxy acid, or urea)
- Topical emollients (products that soften the skin)
- Topical retinoids or oral retinoids
- Antiseptic washes (this can reduce risk for bacterial infections so as to avoid frequent antibiotic therapy)
When to see a doctor
If you need medical advice, you can look for doctors or other healthcare professionals with experience on handling cases of EI. These specialists may be found through advocacy organizations, clinical trials, or articles published in medical journals.