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Start free with EleplanSevere generalized junctional epidermolysis bullosa
ORPHA:79404Disease
Also called Epidermolysis bullosa letalis · JEB-H · Junctional epidermolysis bullosa generalisata gravis · Junctional epidermolysis bullosa, Herlitz type · Junctional epidermolysis bullosa, Herlitz-Pearson type · Severe generalized JEB
What it is
A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
11Common30–79%
9These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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