Ichthyosis bullosa of Siemens

Synonyms: Bullous type of ichthyosis; Ichthyosis, bullous type; Superficial epidermolytic ichthyosis

Summary

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant congenital bullous ichthyosis without erythroderma. Blistering occurs in response to mild physical trauma and results in superficial erosion ('molting') of the outer skin, particularly on flexures, shins, and the periumbilical region. Keratin filament aggregates are seen by electron microscopy in the granular and upper spinous layers of the epidermis (summary by McLean et al., 1994). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

KRT2
40 tests
Also known as: CK-2e, K2e, KRT2A, KRT2E, KRTE, KRT2
Summary: keratin 2

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the integument
- Epidermolytic ichthyosis
  Epidermolytic ichthyosis
  - MedGen UID: 38179
  - Concept ID: C0079153
  - Finding: Disease or Syndrome
  Abnormality of the integument
  See: Feature record | Search on this feature

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