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Disease Hyperkeratosis, Epidermolytic

Name Hyperkeratosis, Epidermolytic
Synonyms BCIE | BIE | Bullous Congenital Ichthyosiform Erythroderma | Bullous Erythroderma Ichthyosiforme | Bullous Erythroderma Ichthyosiformes | Bullous Erythroderma Ichthyosiformis Congenita of Brocq | Bullous Ichthyosiform Erythroderma | Bullous Ichthyosiform Erythroderma Congenital | Bullous Ichthyosiform Erythrodermas | Congenital Bullous Ichthyosiform Erythroderma | Congenital Ichthyosiform Erythroderma, Bullous | EHK | Epidermolytic Hyperkeratoses | Epidermolytic Hyperkeratosis | Epidermolytic Ichthyosis | EPIDERMOLYTIC ICHTHYOSIS EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED | Erythroderma, Bullous Ichthyosiform | Erythroderma Ichthyosiforme, Bullous | Erythroderma Ichthyosiformes, Bullous | Erythrodermas, Bullous Ichthyosiform | Hyperkeratoses, Epidermolytic | Ichthyosiforme, Bullous Erythroderma | Ichthyosiform Erythroderma, Bullous | Ichthyosiform Erythroderma, Bullous Congenital | Ichthyosiform Erythrodermas, Bullous | Ichthyosiformes, Bullous Erythroderma
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.
Categories Congenital abnormality | Genetic disease (inborn) | Infant-newborn disease | Skin disease
MeSH® ID D017488
OMIM® ID 113800
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Infant, Newborn, Diseases Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Keratosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes
6. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes

Top ↑ Descendants

Hyperkeratosis, Epidermolytic Has associated chemicals Has associated genes
  Epidermolytic Hyperkeratosis, Late-Onset
  Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis Has associated chemicals Has associated genes