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epidermolysis bullosa simplex superficialis (EBSS); epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC)
Pathology:
- development of skin cleavage just beneath the level of stratum corneum
Genetics:
- autosomal dominant
- associated with defects in COL7A1
Clinical manifestations:
- milia & atrophic scarring
- involvement of oral &/or ocular surfaces
- presence of blisters
- absence of spontaneous continual exfoliation or peeling
General
epidermolysis bullosa simplex (EBS)
Database Correlations
OMIM 607600
References
UniProt :accession Q02388