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| Disease found: | Epidermolytic Ichthyosis |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetic disorder leading to frequent blistering and scaling of the skin (more info) |
| Signs and Symptoms: | Mild blistering on friction or severe erosions or widespread warty scaling of the skin, hair and skin abnormalities such as reduced sweating, callus formation on the palms or soles; infants usually show red, blistering skin that develops into thickened skin and scaling into adulthood, as well as conjunctival hamartoma, pruritus, and xerosis |
| Diagnosis: | Hyperkeratosis on pathology, Genetic testing in KRT1 and KRT10 genes |
| Treatment: | Symptomatic treatment |
| Clinical Management: | 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 |
| Referral: | Dermatologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None currently recruiting on clinicaltrials.gov |