generalized junctional epidermolysis bullosa non-Herlitz type
Findings
No curated finding names generalized junctional epidermolysis bullosa non-Herlitz type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
Definition from the Mondo Disease Ontology (MONDO:0019307), read 2026-09-29. CC BY 4.0.
Features
14 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)
- Abnormal skin pigmentationHPOHP:0001000
- Very frequent (80% to 99% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Very frequent (80% to 99% of cases)
- Atrophic scarsHPOHP:0001075
- Very frequent (80% to 99% of cases)
- MiliaHPOHP:0001056
- Very frequent (80% to 99% of cases)
- Oral mucosal blistersHPOHP:0200097
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Occasional (5% to 29% of cases)
Genes
5 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.
- COL17A1HGNC:2194
- Supportive · Orphanet · Autosomal recessive · 2021
- ITGB4HGNC:6158
- Supportive · Orphanet · Autosomal recessive · 2021
- LAMA3HGNC:6483
- Supportive · Orphanet · Autosomal recessive · 2021
- LAMB3HGNC:6490
- Supportive · Orphanet · Autosomal recessive · 2021
- LAMC2HGNC:6493
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: generalized junctional epidermolysis bullosa non-Herlitz type
- Also called
- generalised atrophic benign epidermolysis bullosageneralised junctional epidermolysis bullosa, non-Herlitz typegeneralized atrophic benign epidermolysis bullosageneralized junctional epidermolysis bullosa, non-Herlitz typeJEB, generalised intermediateJEB, generalized intermediatejunctional epidermolysis bullosa generalisata mitisjunctional epidermolysis bullosa, Disentis type