Epidermolysis bullosa simplex with circinate migratory erythema

General Information (adopted from Orphanet):

Synonyms, Signs: EBS-migr
Number of Symptoms 4
OrphanetNr: 158681
OMIM Id: 609352
ICD-10: Q81.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Basal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
2
(HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
3
(HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
4
(HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gu et al. (2003) described a form of epidermolysis bullosa simplex that was milder than the Dowling-Meara phenotype (131760) but involved an unusual migratory circinate erythema with multiple vesicles on the area affected by the erythema. The lesions, ...
Molecular genetics OMIM In an affected Japanese girl and affected members of an unrelated Korean family, Gu et al. (2003) identified heterozygosity for a 1649delG mutation in the KRT5 gene (148040.0017). The mutation was assumed to have arisen de novo in ...