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Start free with EleplanIntermediate generalized junctional epidermolysis bullosa
ORPHA:79402Disease
Also called Generalized atrophic benign epidermolysis bullosa · Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB · Junctional epidermolysis bullosa generalisata mitis · Junctional epidermolysis bullosa, Disentis type
What it is
A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000 (Sweden)Junctional epidermolysis bullosa
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
8These 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
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
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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