Selected Cases With Eb

Dimitra Kiritsi, Freiburg

A variation of JEB was discovered with an 83 years old woman; (a late onset). Her hair and fingernails were healthy looking, but her toenails were dystrophic, and she suffered from occasional localized blistering. Two of her sisters showed the same deformity.

The clinical spectrum of Kindler syndrome (KS):
KS is a fourth variation of EB newly discovered and named in 2008; it is also caused by a collagen mutation; leading to blistering on the skin of the hands, gums and intestines. It can occur at a later age and can be a late diagnosis of KS. But it is difficult to diagnose; is it a 'normal 'DEB or KS?

Read more...

Lethal congenital epidermolysis bullosa (LECEB): A homozygous nonsense mutation in the JUP gene leads to absence of plakoglobin in situ APSS; A deformity, showing a lot of resemblance with EB; it demonstrates itself also by deformities in the outer skin.

Summary

  • Late onset and very mild phenotypes of JEB and KS exist; diagnosis of hereditary EB at an advanced age.
  • LECEB: congenital, extensive epidermolysis, complete absence of
  • hair and onycholysis; caused by loss-of-function mutations in the JUP gene
  • APSS: an important differential diagnosis for EBS
Show less...

PDF Downloads: