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Epidermolysis bullosa simplex with circinate migratory erythema
Disease definition
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:158681
Classification level: Disorder- Synonym(s):
- EBS-migr
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q81.0
- OMIM: 609352
- UMLS: C1836284
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown but 2 families have been reported to date.
Clinical description
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.
Etiology
EBS-migr is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5.
Genetic counseling
Transmission is autosomal dominant.
Detailed information
Article for general public
Professionals
- Emergency guidelines
- Français (2012, pdf)
- Clinical practice guidelines
- Français (2015, pdf)
- English (2017)
- Español (2017)
- Disability factsheet
- Français (2013, pdf)
- Español (2018, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.