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epidermolysis bullosa simplex with migratory circinate erythema (EBSMCE)
Pathology:
- electron microscopy findings are distinct from those seen in Dowling-Meara type EBS, with no evidence of tonofilament clumping
Genetics:
- associated with defects in KRT5
Clinical manifestations:
- migratory circinate erythema
- skin lesions appear from birth primarily on the hands, feet, & legs but spare nails, ocular epithelia & mucosa
- lesions heal with brown pigmentation but no scarring
Database Correlations
OMIM 609352
References
OMIM :accession 609352