Ichthyosis Bullosa of Siemens

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.

Also Known As:

Bullous Type of Ichthyosis; Ichthyosis, Bullous Type; Ichthyosis, Bullous Type of Siemens; Bullous Type Ichthyoses; Bullous Type Ichthyosis; Ichthyoses, Bullous Type; Ichthyosis Bullous Type; Siemens Ichthyosis Bullosa

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Ichthyosis Bullosa of Siemens: 28
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ichthyosis Bullosa of Siemens: 28
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - Ichthyosis Bullosa of Siemens: 28
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - Ichthyosis Bullosa of Siemens: 28
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Ichthyosis Bullosa of Siemens: 28
  - Genetic Skin Diseases: 47
    - Ichthyosis Bullosa of Siemens: 28

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Disease

Drug/Important Bio-Agent (IBA)