Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Skin Abnormalities
Ichthyosis
Preferred term
Ichthyosis Bullosa of Siemens
Type
-
Topical Descriptor
Broader concept
Entry terms
- Bullous Type Ichthyoses
- Bullous Type Ichthyosis
- Bullous Type of Ichthyosis
- Ichthyoses, Bullous Type
- Ichthyosis Bullous Type
- Ichthyosis, Bullous Type
- Ichthyosis, Bullous Type of Siemens
Scope note
- An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
History note
- 2007
In other languages
-
Finnish
-
Siemens
-
Swedish
-
Iktyos, bullös
URI
http://www.yso.fi/onto/mesh/D053560
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