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late-onset junctional epidermolysis bullosa - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

late-onset junctional epidermolysis bullosa

MONDO:0019309

Also known as:EB progressiveJEB-lo

Overview

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.

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 common findings: Fragile skin, Anonychia, Enamel hypoplasia, and Adermatoglyphia and others; and sometimes findings: Carious teeth, Excessive sweating (hyperhidrosis), Localized skin lesion, and Hypoplastic dermoepidermal hemidesmosomes and others.

Organ System	Phenotype Count	Example Features
Skin	6	Fragile skin, Abnormal blistering of the skin, Nail dystrophy

Diagnosis

Biomarker and diagnostic research for late-onset junctional epidermolysis bullosa has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 late-onset junctional epidermolysis bullosa.

49 publications have been identified in PubMed for late-onset junctional epidermolysis bullosa. Research spans Basic Science / Preclinical (37%), Review / Meta-Analysis (22%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Laboratory research	18	37%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79406

GARD

Genetic and Rare Diseases Info Center

GARD:12921

Questions for Your Care Team

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Kisho

late-onset junctional epidermolysis bullosa

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

late-onset junctional epidermolysis bullosa

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications