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junctional epidermolysis bullosa inversa (EBJ-I) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

junctional epidermolysis bullosa inversa

MONDO:0019308

Also known as:EBJ-IJEB-Iinverse JEB

Overview

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.

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Carious teeth, Abnormal blistering of the skin, and Localized skin lesion; and common findings: Fragile skin, Atrophic scars, Enamel hypoplasia, and Nail dystrophy. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Abnormal blistering of the skin, Localized skin lesion, Fragile skin

Prognosis

Phenotype severity distribution: 3 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for junctional epidermolysis bullosa inversa.

3 publications have been identified in PubMed for junctional epidermolysis bullosa inversa. Research spans Clinical Trial Publication (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Nguyen Diep QT (2025). [PMID: 40104525](https://pubmed.ncbi.nlm.nih.gov/40104525/). *Journal of electrical bioimpedance*. [Basic Science / Preclinical]
Salna M (2025). [PMID: 40748697](https://pubmed.ncbi.nlm.nih.gov/40748697/). *Interdisciplinary cardiovascular and thoracic surgery*. [Clinical Trial Publication]
Suru A (2024). [PMID: 38803406](https://pubmed.ncbi.nlm.nih.gov/38803406/). *Cureus*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79405

GARD

Genetic and Rare Diseases Info Center

GARD:2143

Questions for Your Care Team

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junctional epidermolysis bullosa inversa

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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