junctional epidermolysis bullosa inversa
MONDO:0019308Mondo
Findings
No curated finding names junctional epidermolysis bullosa inversa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.
Definition from the Mondo Disease Ontology (MONDO:0019308), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Localized skin lesionHPOHP:0011355
- Very frequent (80% to 99% of cases)
- Atrophic scarsHPOHP:0001075
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- AnonychiaHPOHP:0001798
- Occasional (5% to 29% of cases)
- Gastrointestinal inflammationHPOHP:0004386
- Occasional (5% to 29% of cases)
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
- Occasional (5% to 29% of cases)
- MiliaHPOHP:0001056
- Occasional (5% to 29% of cases)
- Oral mucosal blistersHPOHP:0200097
- Occasional (5% to 29% of cases)
Reported absent (13)
- Abnormal respiratory system morphologyHPOHP:0012252
- Abnormal scalp morphologyHPOHP:0001965
- Abnormality of the eyeHPOHP:0000478
- Abnormality of the urinary systemHPOHP:0000079
- AnemiaHPOHP:0001903
- Basal cell carcinomaHPOHP:0002671
- Cutaneous melanomaHPOHP:0012056
- Genital blisteringHPOHP:0031464
- Growth delayHPO
Where it sits
- A kind of
Other names
3 names
Resolves to: junctional epidermolysis bullosa inversa
- Also called
- EBJ-Iinverse JEBJEB-I