Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Epidermolysis Bullosa
Preferred term
Epidermolysis Bullosa Dystrophica
Type
-
Topical Descriptor
Broader concept
Entry terms
- Bullosa, Dystrophic Epidermolysis
- Bullosas, Dystrophic Epidermolysis
- Dystrophic Epidermolysis Bullosa
- Dystrophic Epidermolysis Bullosas
- Epidermolysis Bullosa, Dystrophic
- Epidermolysis Bullosas, Dystrophic
Scope note
- 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.
History note
- 1991
In other languages
-
Finnish
-
dystrofinen epidermolysis bullosa
-
epidermolysis bullosa dystrophica
-
Swedish
URI
http://www.yso.fi/onto/mesh/D016108
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}