Epidermolytic Hyperkeratosis

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; Bullous Erythroderma Ichthyosiforme; Bullous Erythroderma Ichthyosiformis Congenita of Brocq; Bullous Ichthyosiform Erythroderma; Bullous Ichthyosiform Erythroderma Congenital; Congenital Ichthyosiform Erythroderma, Bullous; Epidermolytic Ichthyosis; Bullous Erythroderma Ichthyosiformes; Bullous Ichthyosiform Erythrodermas; Epidermolytic Hyperkeratoses; Erythroderma Ichthyosiformes, Bullous; Erythroderma, Bullous Ichthyosiform; Erythrodermas, Bullous Ichthyosiform; Hyperkeratoses, Epidermolytic; Ichthyosiform Erythroderma, Bullous; Ichthyosiform Erythrodermas, Bullous; Ichthyosiforme, Bullous Erythroderma; Ichthyosiformes, Bullous Erythroderma; Erythroderma Ichthyosiforme, Bullous; Ichthyosiform Erythroderma, Bullous Congenital

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Epidermolytic Hyperkeratosis: 237
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Congenital Ichthyosiform Erythroderma: 42
      - Epidermolytic Hyperkeratosis: 237
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - Congenital Ichthyosiform Erythroderma: 42
      - Epidermolytic Hyperkeratosis: 237
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Epidermolytic Hyperkeratosis: 237
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Epidermolytic Hyperkeratosis: 237
  - Genetic Skin Diseases: 47
    - Congenital Ichthyosiform Erythroderma: 42
      - Epidermolytic Hyperkeratosis: 237

Kazuhiro Kourou Selected Research

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Disease

Drug/Important Bio-Agent (IBA)