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Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
ORPHA:158681Classification level: Disorder
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q81.0
- OMIM: 609352
- UMLS: C1836284
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown but 2 families have been reported to date.
Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent.
EBS-migr is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5.
Transmission is autosomal dominant.