Autosomal dominant epidermolysis bullosa simplex
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Epidermolysis bullosa simplex with circinate migratory erythema (disorder)
Epidermolysis bullosa simplex with circinate migratory erythema
A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. 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. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant.
epidermolysis bullosa simplex met circinair migrerend erytheem
EBS-migr
epidermolysis bullosa simplex met circinair erythema migrans
Id716700003
StatusPrimitive
Associated morphologyEpidermolysis
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified