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generalized junctional epidermolysis bullosa non-Herlitz type (GABEB) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

generalized junctional epidermolysis bullosa non-Herlitz type

MONDO:0019307

Also known as:GABEBJEB, generalised intermediateJEB, generalized intermediate

Overview

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.

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: Skin color changes (abnormality of skin pigmentation), Milia, Aplasia cutis congenita, and Atrophic scars and others; and common findings: Anonychia, Low red blood cell count (anemia), and Nail dystrophy. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Palmoplantar keratoderma, Skin color changes (abnormality of skin pigmentation), Scarring alopecia of scalp

Prognosis

Phenotype severity distribution: 8 very common features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 generalized junctional epidermolysis bullosa non-Herlitz type.

3 publications have been identified in PubMed for generalized junctional epidermolysis bullosa non-Herlitz type. Research spans Other (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Doruska MJ (2024). [PMID: 39689171](https://pubmed.ncbi.nlm.nih.gov/39689171/). *Proceedings of the National Academy of Sciences of the United States of America*. [Epidemiology / Natural History]
Véliz S (2024). [PMID: 39034598](https://pubmed.ncbi.nlm.nih.gov/39034598/). *Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry*. [Case Report / Case Series]
Skrypnyk C (2024). [PMID: 38859940](https://pubmed.ncbi.nlm.nih.gov/38859940/). *Frontiers in genetics*. [Other]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79402

GARD

Genetic and Rare Diseases Info Center

GARD:12922

Questions for Your Care Team

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generalized 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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