Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
146
relevant articles (1 outcomes,
6 trials/studies)
found for this Disease
Description:
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Also Known As:
Bullous Congenital Ichthyosiform Erythroderma; Congenital Bullous Ichthyosiform Erythroderma; Hyperkeratosis, Epidermolytic; Congenital Ichthyosiform Erythroderma, Bullous; Bullous Erythroderma Ichthyosiforme; Epidermolytic Hyperkeratoses; Hyperkeratoses, Epidermolytic; Erythroderma Ichthyosiforme, Bullous; Ichthyosiform Erythroderma, Bullous Congenital
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Disease Context: Research Results