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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-05-2010
Symbol EBDPR
Location 3p21.31
Name epidermolysis bullosa dystrophic, pruriginosa
Corresponding gene COL7A1
Other symbol(s) DEB-Pr
Main clinical features
  • generalized or localized, severe pruritus
  • skin fragility disorder associated with anchoring fibril abnormalities and sublamina densa blistering, with nail dystrophy, skin atrophy and milia formation
  • excoriated and lichenified papules, nodules, and plaques associated with scarring on the skin, foot dorsum, elbows, wrists, and back
  • pruritis occurred at puberty or in adulthood
  • severe, generalized, and unresponsive to conventional therapies
  • skin biopsies showed deposition of variable amounts of collagen VII at the dermal-epidermal junction
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder defense and immunity
    Type disease