Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

epidermolysis bullosa simplex 5A, Ogna type (EBS-O) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa simplex 5A, Ogna type

MONDO:0007555

Also known as:EBS-OEBS-OgEBSOG

Overview

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.

GeneticsAutosomal dominant · PLEC (chr 8)

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 common findings: Palmoplantar keratoderma, Fragile skin, Hypermelanotic macule, and Palmoplantar blistering and others; and sometimes findings: Abnormality of the dentition. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Skin fragility with non-scarring blistering, Palmoplantar keratoderma, Fragile skin

Genetic Landscape

PLEC function has not been fully characterized.

Epidermolysis bullosa simplex 5A, Ogna type is associated with mutations in the PLEC gene on chromosome 8.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 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 epidermolysis bullosa simplex 5A, Ogna type.

4 publications have been identified in PubMed for epidermolysis bullosa simplex 5A, Ogna type. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Zhang H (2024). [PMID: 39502218](https://pubmed.ncbi.nlm.nih.gov/39502218/). *Heliyon*. [Basic Science / Preclinical]
She QY (2024). [PMID: 39027568](https://pubmed.ncbi.nlm.nih.gov/39027568/). *Heliyon*. [Case Report / Case Series]
Kantaputra P (2024). [PMID: 38928066](https://pubmed.ncbi.nlm.nih.gov/38928066/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 10:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:131950

Orphanet

European rare disease database

Orphanet:79401

GARD

Genetic and Rare Diseases Info Center

GARD:2148

Questions for Your Care Team

→Should I pursue genetic testing for PLEC, 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?

← Back to All Diseases

epidermolysis bullosa simplex 5A, Ogna type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features