Primary care
Recommendation 1
Ceramide and cholesterol application or topical emollients, washign with antiseptic soap 2-3x a week, baths with salt or sodium bicarbonate and bleach to descale and prevent infection
Epidermolytic Ichthyosis
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Genetic disorder leading to frequent blistering and scaling of the skin (more info)
Common symptoms
Mild blistering on friction or severe erosions or widespread warty scaling of the skinhair and skin abnormalities such as reduced sweatingcallus formation on the palms or solesinfants usually show redblistering skin that develops into thickened skin and scaling into adulthoodas well as conjunctival hamartomapruritusand xerosis
When to suspect
Recommendation 1
Hyperkeratosis on pathology, Genetic testing in KRT1 and KRT10 genes
How to test
Recommendation 1
Hyperkeratosis on pathology, Genetic testing in KRT1 and KRT10 genes
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Symptomatic treatment
Further support
Recommendation 1
Dermatologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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