Severe generalized junctional epidermolysis bullosa
ORPHA:79404· ICD-10 Q81.1
Definition
A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal