late-onset junctional epidermolysis bullosa
Findings
No curated finding names late-onset junctional epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.
Definition from the Mondo Disease Ontology (MONDO:0019309), read 2026-09-29. CC BY 4.0.
Features
11 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
- Frequent (30% to 79% of cases)
- AdermatoglyphiaHPOHP:0007455
- Frequent (30% to 79% of cases)
- AnonychiaHPOHP:0001798
- 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)
- Carious teethHPOHP:0000670
- Occasional (5% to 29% of cases)
- HyperhidrosisHPOHP:0000975
- Occasional (5% to 29% of cases)
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
- Occasional (5% to 29% of cases)
- Localized skin lesionHPOHP:0011355
- Occasional (5% to 29% of cases)
- Oral mucosal blistersHPOHP:0200097
- Occasional (5% to 29% of cases)
Reported absent (16)
- Abnormal respiratory system morphologyHPOHP:0012252
- Abnormal scalp morphologyHPOHP:0001965
- Abnormality of the eyeHPOHP:0000478
- Abnormality of the urinary systemHPOHP:0000079
- AnemiaHPOHP:0001903
- Atrophic scarsHPOHP:0001075
- Basal cell carcinomaHPOHP:0002671
- Cutaneous melanomaHPOHP:0012056
- Gastrointestinal inflammation
Genes
1 gene
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.
- COL17A1HGNC:2194
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: late-onset junctional epidermolysis bullosa
- Also called
- EB progressiveJEB-lo