Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

J Invest Dermatol. 2017 Oct;137(10):2227-2230. doi: 10.1016/j.jid.2017.04.041. Epub 2017 May 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA / genetics*
  • DNA Mutational Analysis
  • Dermis / ultrastructure
  • Dystonin / genetics*
  • Dystonin / metabolism
  • Epidermolysis Bullosa Simplex / complications
  • Epidermolysis Bullosa Simplex / diagnosis
  • Epidermolysis Bullosa Simplex / genetics*
  • Humans
  • Male
  • Microscopy, Electron, Transmission
  • Mutation*
  • Pedigree
  • Prurigo / diagnosis
  • Prurigo / etiology*

Substances

  • DST protein, human
  • Dystonin
  • DNA