epidermolysis bullosa simplex 2E, with migratory circinate erythema
Findings
No curated finding names epidermolysis bullosa simplex 2E, with migratory circinate erythema yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
Definition from the Mondo Disease Ontology (MONDO:0012258), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Erythema migransHPOHP:0031180
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Intra-epidermal blisteringHPOHP:0033802
- 9 of 9 reported patients
- Acral blisteringHPOHP:0031045
- Frequent (30% to 79% of cases)
- Generalized hypopigmentationHPOHP:0007513
- Frequent (30% to 79% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Frequent (30% to 79% of cases)
Show the remaining 4
- Abnormality of the kneeHPOHP:0002815
- Occasional (5% to 29% of cases)
- Abnormality of the neckHPOHP:0000464
- Occasional (5% to 29% of cases)
- Generalized reticulate brown pigmentationHPOHP:0007599
- Occasional (5% to 29% of cases)
- Pretibial blisteringHPOHP:0012221
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRT5HGNC:6442
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: epidermolysis bullosa simplex 2E, with migratory circinate erythema
- Also called
- EBS-migrepidermolysis bullosa simplex with migratory circinate erythema