Phenotypes associated with the disease epidermolysis bullosa simplex 2E, with migratory circinate erythema (OMIM:609352):
- Erythema migrans (HP:0031180): An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). Evidence: PCS. Frequency: 9/9. (PMID:12925204)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 9/9. (PMID:12925204)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:12925204)
- Intra-epidermal blistering (HP:0033802): A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. Evidence: PCS. Frequency: 9/9. (PMID:12925204)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. (PMID:12925204)