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localized junctional epidermolysis bullosa, non-Herlitz type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

localized junctional epidermolysis bullosa, non-Herlitz type

MONDO:0016673

Also known as:JEB-nH loc

Overview

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.

ResearchLimited published research (1 article)

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: Fragile skin and Abnormal blistering of the skin; and common findings: Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, and Enamel hypoplasia and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	8	Fragile skin, Abnormal blistering of the skin, Atrophic, patchy alopecia

Prognosis

Phenotype severity distribution: 2 very common features, 9 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 localized junctional epidermolysis bullosa, non-Herlitz type.

1 publication has been identified in PubMed for localized junctional epidermolysis bullosa, non-Herlitz type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Fagan EF (2025). [PMID: 40166845](https://pubmed.ncbi.nlm.nih.gov/40166845/). *Pediatr Dermatol*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:251393

GARD

Genetic and Rare Diseases Info Center

GARD:12923

Questions for Your Care Team

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localized junctional epidermolysis bullosa, non-Herlitz type

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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