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

Rare Disease

junctional epidermolysis bullosa

MONDO:0017612

Also known as:EBJJEBcongenital junctional epidermolysis bullosa

Find Clinical TrialsTrials

Overview

Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.

OnsetCONGENITAL, JUVENILE, ADULT, NEONATAL

Clinical Trials5 registered · 4 recruiting

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.

No HPO annotations are available for this condition.

Age of onset: at birth, adolescence, adulthood, newborn period.

GeneReviews

Clinical Guidance

Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate and is based on severity and survival past the first years of life . JEB generalized severe (previously called JEB Herlitz). Severe blistering is present at birth or becomes apparent in the neonatal period and may lead to large regions of affected skin with significant granulation tissue. Granulation tissue characteristically appears around the nose, mouth, ears, and tips of the fingers and toes as well as in areas subject to friction such as the buttocks and the back of the head. Persistent plaques on the face can be challenging to treat.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Junctional epidermolysis bullosa (JEB) should be suspected in individuals who have fragility of the skin with:

Blistering with little or no trauma. Blistering may be mild or severe; however, blisters generally heal with no significant scarring.
Significant oral and mucous membrane involvement

Note: Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally in and around the upper airway and the trachea .

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for junctional epidermolysis bullosa. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with junctional epidermolysis bullosa (JEB), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Surveillance includes the following:

Annual complete blood counts and measurement of serum iron concentration to screen for iron-deficiency anemia
Annual measurement of serum zinc concentration to screen for zinc deficiency
Annual measurement of serum vitamin D

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.

5 clinical trials registered, 4 recruiting. Interventions under study include drug therapy and biologic therapy. Pipeline includes 1 PHASE3, 1 PHASE2, 2 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06917690](https://clinicaltrials.gov/study/NCT06917690)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:305

GARD

Genetic and Rare Diseases Info Center

GARD:2152

Questions for Your Care Team

→Are any of the 5 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Patient case studies	27	50%
Laboratory research	8	15%
Research summaries	6	11%
New treatment approaches	6	11%
Disease patterns and progression	5	9%
Other research	2	4%

Kisho

junctional epidermolysis bullosa

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

junctional epidermolysis bullosa

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications