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Concept information

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Vesiculobullous > Epidermolysis Bullosa > Epidermolysis Bullosa Dystrophica
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Epidermolysis Bullosa > Epidermolysis Bullosa Dystrophica
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Epidermolysis Bullosa > Epidermolysis Bullosa Dystrophica
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Epidermolysis Bullosa > Epidermolysis Bullosa Dystrophica
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Epidermolysis Bullosa > Epidermolysis Bullosa Dystrophica
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Collagen Diseases > Epidermolysis Bullosa Dystrophica

Terme préférentiel

Epidermolysis Bullosa Dystrophica  

Type

  • mesh:Descriptor

Définition

  • Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

Concept générique

Synonyme(s)

  • Dystrophic Epidermolysis Bullosa
  • Epidermolysis Bullosa, Dystrophic

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-Z27VX1R7-C

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RDF/XML TURTLE JSON-LD Date de création 12/02/1990, dernière modification le 18/06/2015