Epidermolytic ichthyosis (Q62720)

Epidermolytic ichthyosis is a genetic skin disorder due to mutations in the keratin 10 gene (KRT10). Inheritance is usually autosomal dominant but up to 50% of cases are sporadic. It may manifest at birth with erythroderma and severe blistering but with age blistering tends to be less severe and erythema less prominent. Progressive hyperkeratosis develops, accentuated at joint flexures. Life expectancy is usually normal although the disease can be severely incapacitating.