Hyperkeratosis, Epidermolytic
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.
Year introduced: 1993(1979)
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Tree Number(s): C16.131.831.512.400.375, C16.320.850.400.375, C16.614.492.400.375, C17.800.428.333.250.375, C17.800.804.512.400.375, C17.800.827.400.375
MeSH Unique ID: D017488
Entry Terms:
- Epidermolytic Hyperkeratoses
- Hyperkeratoses, Epidermolytic
- Bullous Congenital Ichthyosiform Erythroderma
- Congenital Bullous Ichthyosiform Erythroderma
- Ichthyosiform Erythroderma, Bullous Congenital
- Congenital Ichthyosiform Erythroderma, Bullous
- Bullous Ichthyosiform Erythroderma Congenital
- Bullous Erythroderma Ichthyosiformis Congenita of Brocq
- Bullous Ichthyosiform Erythroderma
- Bullous Ichthyosiform Erythrodermas
- Erythroderma, Bullous Ichthyosiform
- Erythrodermas, Bullous Ichthyosiform
- Ichthyosiform Erythroderma, Bullous
- Ichthyosiform Erythrodermas, Bullous
- Epidermolytic Hyperkeratosis
- Bullous Erythroderma Ichthyosiforme
- Erythroderma Ichthyosiforme, Bullous
- Bullous Erythroderma Ichthyosiformes
- Erythroderma Ichthyosiformes, Bullous
- Ichthyosiforme, Bullous Erythroderma
- Ichthyosiformes, Bullous Erythroderma
- Epidermolytic Ichthyosis
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