Epidermolytic Ichthyosis

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This 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

TREATMENT

  • Recommendation 1

    Symptomatic treatment

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

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

Sources

No data available

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