localized junctional epidermolysis bullosa, non-Herlitz type
Findings
No curated finding names localized junctional epidermolysis bullosa, non-Herlitz type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.
Definition from the Mondo Disease Ontology (MONDO:0016673), read 2026-09-29. CC BY 4.0.
Features
19 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)
- Fragile skinHPOHP:0001030
- Very frequent (80% to 99% of cases)
- Abnormality of dental colorHPOHP:0011073
- Frequent (30% to 79% of cases)
- Acral blisteringHPOHP:0031045
- Frequent (30% to 79% of cases)
- Atrophic, patchy alopeciaHPOHP:0004529
- Frequent (30% to 79% of cases)
- Dental enamel pitsHPOHP:0009722
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Skin detachmentHPOHP:0032156
- Frequent (30% to 79% of cases)
- Sparse axillary hairHPOHP:0002215
- Frequent (30% to 79% of cases)
- Sparse pubic hairHPOHP:0002225
- Frequent (30% to 79% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Occasional (5% to 29% of cases)
Show the remaining 7
- Dystrophic fingernailsHPOHP:0008391
- Occasional (5% to 29% of cases)
- Dystrophic toenailHPOHP:0001810
- Occasional (5% to 29% of cases)
- Scarring alopecia of scalpHPOHP:0004552
- Occasional (5% to 29% of cases)
- Atypical scarring of skinHPOHP:0000987
- Very rare (1% to 4% of cases)
- Limb joint contractureHPOHP:0003121
- Very rare (1% to 4% of cases)
- MiliaHPOHP:0001056
- Very rare (1% to 4% of cases)
Genes
2 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
Other names
1 name
Resolves to: localized junctional epidermolysis bullosa, non-Herlitz type
- Also called
- JEB-nH loc