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epidermolysis bullosa simplex (EBS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa simplex

MONDO:0017610

Also known as:EBSEEBepidermolysis bullosa intraepidermic

Find Clinical TrialsTrials

Overview

Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.

OnsetCONGENITAL, ADULT, CHILDHOOD, NEONATAL

Clinical Trials5 registered · 3 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, adulthood, childhood, newborn period.

GeneReviews

Clinical Guidance

In contrast to prior classification schemes, the most recent 2020 reclassification system distinguishes between EBS, defined by blistering within the basal keratinocytes, and other disorders with skin fragility that lack significant blistering as a result of superficial skin cleavage above the basal keratinocytes . The most common forms of EBS – localized EBS, intermediate EBS, severe EBS, and EBS with mottled pigmentation – are distinguished primarily on dermatologic, genetic, and histopathologic findings. The clinical features of these disorders are summarized in . Rare subtypes including several distinct syndromes have also been identified. Table 2. Select Features of the Four Most Common EBS Subtypes Clinical Features | EBS Subtype

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

Epidermolysis bullosa simplex (EBS) should be suspected in individuals with the following clinical findings:

Fragility of the skin manifested by blistering with little or no trauma, which typically heals without scarring
Blistering that:
May be present in the neonatal period

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 epidermolysis bullosa simplex. 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 epidermolysis bullosa simplex (EBS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 8.

Recommended Evaluations Following Initial Diagnosis in Individuals with Epidermolysis Bullosa Simplex

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 9.

Recommended Surveillance for Individuals with Epidermolysis Bullosa Simplex

System/Concern | Evaluation | Frequency

Skin | • Dermatologic assessment for blisters, oral disease, hyperkeratosis, hyperhidrosis, signs/symptoms of wound infection, pain, itching

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, 3 recruiting. Interventions under study include drug therapy. Pipeline includes 5 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07027345](https://clinicaltrials.gov/study/NCT07027345)

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:304

GARD

Genetic and Rare Diseases Info Center

GARD:10752

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

Localized	Intermediate	Severe	W/mottled pigmentation
Age of onset	Infancy, usually by 12-18 mos	Birth/infancy	Birth
(keratoderma)	Occasionally	Occasionally	Common, progressive, diffuse
Nail involvement	Occasionally	Occasionally	Common
Milia	Rare	Occasionally	Common
hypopigmentation	No	Can occur	Common

Research Type	Count	% of Total
Patient case studies	31	53%
Laboratory research	14	24%
Research summaries	4	7%
Clinical study results	3	5%
Disease patterns and progression	2	3%
New treatment approaches	2	3%
Other research	1	2%
Testing and diagnosis research	1	2%

Kisho

epidermolysis bullosa simplex

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

Oral mucosa

Other

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Cardiac

Other

Recent Publications

Latest News & Developments

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.

Treatment Landscape for Epidermolysis Bullosa Simplex: A Review of Established and Emerging Therapies.

epidermolysis bullosa simplex

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

Oral mucosa

Other

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Cardiac

Other

Recent Publications

Latest News & Developments

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.

Treatment Landscape for Epidermolysis Bullosa Simplex: A Review of Established and Emerging Therapies.