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epidermolysis bullosa dystrophica pretibial type (PR-DEB)
Genetics:
- autosomal dominant
- associated with defects in COL7A1
Clinical manifestations:
- pretibial blisters that develop into prurigo-like hyperkeratotic lesions
- predominantly affects the pretibial areas, sparing the knees & other parts of the skin
- nail dystrophy
- albopapuloid skin lesions
- hypertrophic scars without pretibial predominance
- phenotype shows considerable interindividual variability
General
epidermolysis bullosa dystrophica (EBD)
Database Correlations
OMIM 131850
References
UniProt :accession Q02388