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epidermolysis bullosa simplex with nail dystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa simplex with nail dystrophy

MONDO:0014661

Also known as:epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessiveepidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessiveEBSND

Overview

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized skin blistering associated with severe nail dystrophy.

GeneticsAutosomal recessive · PLEC (chr 8)

OnsetCHILDHOOD

ResearchLimited published research (7 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 always present findings: Abnormal blistering of the skin, Pruritus, Nail dystrophy, and Plantar hyperkeratosis and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Alopecia, Abnormal blistering of the skin, Pruritus

Age of onset: childhood.

Genetic Landscape

PLEC function has not been fully characterized.

Epidermolysis bullosa simplex with nail dystrophy 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: 5 always present features.

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 with nail dystrophy.

7 publications have been identified in PubMed for epidermolysis bullosa simplex with nail dystrophy. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (29%).

Recent Publications

Diociaiuti A (2026). [PMID: 40371845](https://pubmed.ncbi.nlm.nih.gov/40371845/). *Dermatol Reports*. [Review / Meta-Analysis]
Syed A (2026). [PMID: 41816812](https://pubmed.ncbi.nlm.nih.gov/41816812/). *Australas J Dermatol*. [Case Report / Case Series]
Valinotto LE (2025). [PMID: 41247183](https://pubmed.ncbi.nlm.nih.gov/41247183/). *Acta Derm Venereol*. [Review / Meta-Analysis]
Biswal A (2025). [PMID: 40831071](https://pubmed.ncbi.nlm.nih.gov/40831071/). *Indian Dermatol Online J*. [Case Report / Case Series]
Balacco DL (2025). [PMID: 40700032](https://pubmed.ncbi.nlm.nih.gov/40700032/). *Biosci Rep*. [Basic Science / Preclinical]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616487

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 with nail dystrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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