Disease - Epidermolysis bullosa simplex 2E, with migratory circinate erythema
- DefinitionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern.
- AcronymEBS2E
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Browse 1 entry- Keratin, type II cytoskeletal 5 · Gene: KRT5 · Homo sapiens (Human) · 590 amino acids · Evidence at protein level · Annotation score: 5/5