Inherited epidermolysis bullosa

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Inherited epidermolysis bullosa

ORPHA:79361Category

Also called Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa

What it is

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Category

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.

Genes reported in subtypes

FERMT1

Orphanet records this gene on 1 more specific entry under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0019276MONDO 19276UMLS C1274224

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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