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 Clinic and genetics  

Junctional epidermolysis bullosa, JEB
  • Blistering occurs along the lamina lucida on the basement membrane
  • Healing mostly without scarring; however skin atrophy and pigmented irregular nevi can develop
  • Nail dystrophy and loss of nails and dental abnormalities are frequently seen.
  • Partial or total alopecia may occur in some cases.
  • In certain cases granulation tissue around fingernails and nose are typical.
  • The clinical spectrum is extremely wide, from late-onset localized JEB to lethal JEB Herlitz.
  • Immunofluorescence mapping: junctional blisters, with hemidesmosome markers at the apex of the blister and lamina densa markers at the base of the blister
  • Electron microscopy: junctional blisters with intact epidermis and rudimentary or absent hemidesmosomes at the top of the blister and the dermis covered with the lamina densa at the base of the blister
  • Genetics: the inheritance pattern of all subtypes is autosomal recessive; the genetic background is heterogeneous with at least 6 candidate genes. In most cases the genes for laminin 332 (LAMA3, LAMB3, LAMC2) or Collagen XVII (COL17) are affected less frequentlx (e.g. JEB-PA) mutations in the gene for a6ß4-Integrin (ITGA6, ITGB4) have been detected.

Subtypes

  • JEB Herlitz (JEB-H)
  • JEB other (previously classified as JEB non-Herlitz)
  • JEB mit Pylorusatresie (JEB-PA)
  • JEB LOC Syndrom