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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ichthyosiform Erythroderma, Congenital > Hyperkeratosis, Epidermolytic
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ichthyosiform Erythroderma, Congenital > Hyperkeratosis, Epidermolytic
... > Skin and Connective Tissue Diseases > Skin Diseases > Keratosis > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Hyperkeratosis, Epidermolytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Hyperkeratosis, Epidermolytic
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Hyperkeratosis, Epidermolytic
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Hyperkeratosis, Epidermolytic

Término preferido

Hyperkeratosis, Epidermolytic  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Bullous Congenital Ichthyosiform Erythroderma
  • Bullous Erythroderma Ichthyosiforme
  • Bullous Erythroderma Ichthyosiformis Congenita of Brocq
  • Bullous Ichthyosiform Erythroderma
  • Bullous Ichthyosiform Erythroderma Congenital
  • Congenital Bullous Ichthyosiform Erythroderma
  • Congenital Ichthyosiform Erythroderma, Bullous
  • Epidermolytic Hyperkeratosis
  • Epidermolytic Ichthyosis
  • Erythroderma Ichthyosiforme, Bullous
  • Ichthyosiform Erythroderma, Bullous Congenital

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-X9P7LRJV-T

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RDF/XML TURTLE JSON-LD Creado 20/5/92, última modificación 18/6/15