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epidermolysis bullosa dystrophica, Pasini type (albopapuloid dominant dystrophic epidermolysis bullosa)

Genetics: - autosomal dominant - associated with defects in COL7A1 Clinical manifestations: - severe form of dystrophic epidermolysis bullosa - albopapuloid Pasini papule - dorsal extremity blistering - milia formation - red atrophic scarring after recurrent blisters

General

epidermolysis bullosa dystrophica (EBD)

Database Correlations

OMIM correlations

References

UniProt :accession Q02388