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epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa simplex 2B, generalized intermediate

MONDO:0030525

Also known as:EBS2B

Overview

GeneticsAutosomal dominant · KRT5 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Palmoplantar blistering.

Organ System	Phenotype Count	Example Features
Skin	1	Palmoplantar blistering

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KRT5 encodes keratin 5 (590 aa). Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress. Highest expression in Esophagus Mucosa (7,392 TPM) and Skin Not Sun Exposed Suprapubic (5,833 TPM).

Epidermolysis bullosa simplex 2B, generalized intermediate is associated with mutations in the KRT5 gene on chromosome 12.

The KRT5 protein participates in Mammary stem cell produces myoepithelial/basal progenitor, Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis, and Embryonic ectoderm cell produces mammary stem cell pathways.

KRT5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 epidermolysis bullosa simplex 2B, generalized intermediate.

2 publications have been identified in PubMed for epidermolysis bullosa simplex 2B, generalized intermediate. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Valinotto LE (2025). [PMID: 41247183](https://pubmed.ncbi.nlm.nih.gov/41247183/). *Acta Derm Venereol*. [Review / Meta-Analysis]
Buianova AA (2025). [PMID: 40565224](https://pubmed.ncbi.nlm.nih.gov/40565224/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619588

Questions for Your Care Team

→Should I pursue genetic testing for KRT5, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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epidermolysis bullosa simplex 2B, generalized intermediate

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team