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Hyperkeratosis, Epidermolytic

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Definition: 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.     
See Also Keratin-1; Keratin-10 		Other names Ichthyosiform Erythroderma, Bullous Congenital; Erythroderma Ichthyosiforme, Bullous; Ichthyosiformes, Bullous Erythroderma; Ichthyosiforme, Bullous Erythroderma; Ichthyosiform Erythrodermas, Bullous; Ichthyosiform Erythroderma, Bullous; Hyperkeratoses, Epidermolytic; Erythrodermas, Bullous Ichthyosiform; Erythroderma, Bullous Ichthyosiform; Erythroderma Ichthyosiformes, Bullous; Epidermolytic Hyperkeratosis; Epidermolytic Hyperkeratoses; Bullous Ichthyosiform Erythrodermas; Bullous Erythroderma Ichthyosiformes; Bullous Erythroderma Ichthyosiforme; Congenital Ichthyosiform Erythroderma, Bullous; Congenital Bullous Ichthyosiform Erythroderma; Bullous Ichthyosiform Erythroderma Congenital; Bullous Ichthyosiform Erythroderma; Bullous Erythroderma Ichthyosiformis Congenita of

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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