junctional epidermolysis bullosa
Findings
No curated finding names junctional epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
Definition from the Mondo Disease Ontology (MONDO:0017612), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (15)
- epidermolysis bullosa, junctional 2A, intermediate
- epidermolysis bullosa, junctional 2B, severe
- epidermolysis bullosa, junctional 3A, intermediate
- epidermolysis bullosa, junctional 3B, severe
- epidermolysis bullosa, junctional 4, intermediate
- epidermolysis bullosa, junctional 5A, intermediate
- epidermolysis bullosa, junctional 6, with pyloric atresia
- epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
- junctional epidermolysis bullosa Herlitz type
- junctional epidermolysis bullosa inversa
- junctional epidermolysis bullosa with pyloric atresia
- junctional epidermolysis bullosa, non-Herlitz type
- laryngo-onycho-cutaneous syndrome
- late-onset junctional epidermolysis bullosa
- late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Other names
3 names
Resolves to: junctional epidermolysis bullosa
- Also called
- EBJepidermolysis bullosa atrophicansJEB