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epidermolysis bullosa simplex, Dowling-Meara type; epidermolysis bullosa herpetiformis, Dowling-Meara type (EBS-DM)
Pathology:
- large cytoplasmic clumps of keratin containing tonofilaments by electron microscopy
Genetics:
- associated with defects in KRT5, KRT14
Clinical manifestations:
- severe form of intraepidermal epidermolysis bullosa
- more severe than the mild localized Weber-Cockayne type EBS or generalized Koebner type EBS
- generalized herpetiform blistering
- milia formation
- dystrophic nails
- mucous membrane involvement
General
epidermolysis bullosa simplex (EBS)
Database Correlations
OMIM 131760
References
OMIM :accession 131760