Rare Diseases Symptoms Automatic Extraction

Epidermolysis bullosa: where do we stand?

[junctional epidermolysis bullosa]

Epidermolysis bullosa, a genetically determined skin fragility disorder can severely incapacitate the life of the afflicted patient. Although the clinical features are multiple and varied, treatment still remains a major challenge. There have been major changes in the classification of the disease recently. Although there is still a long way to go, good nursing care, and gene therapy could possibly significantly alleviate the suffering of the patients in the future.

Diseases presenting "skin fragility" symptom

  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • harlequin ichthyosis
  • junctional epidermolysis bullosa
  • kindler syndrome

This symptom has already been validated