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epidermolysis bullosa simplex due to plakophilin deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa simplex due to plakophilin deficiency

MONDO:0011472

Also known as:McGrath syndromeectodermal dysplasia-skin fragility syndromeectodermal dysplasia/skin fragility syndrome

Overview

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.

GeneticsAutosomal recessive · PKP1 (chr 1)

OnsetCONGENITAL

ResearchLimited published research (6 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: Absent eyebrow, Absent eyelashes, Anhidrosis, and Fragile skin and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	8	Anhidrosis, Fragile skin, Alopecia of scalp
Arms and legs

Genetic Landscape

PKP1 function has not been fully characterized.

Epidermolysis bullosa simplex due to plakophilin deficiency is associated with mutations in the PKP1 gene on chromosome 1.

Diagnosis

Genetic testing for PKP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

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 due to plakophilin deficiency.

6 publications have been identified in PubMed for epidermolysis bullosa simplex due to plakophilin deficiency. Research spans Review / Meta-Analysis (33%), Other (17%), and Case Report / Case Series (17%).

Recent Publications

Metze D (2026). [PMID: 42029647](https://pubmed.ncbi.nlm.nih.gov/42029647/). *Dermatopathology (Basel)*. [Basic Science / Preclinical]
Gupta M (2026). [PMID: 41051394](https://pubmed.ncbi.nlm.nih.gov/41051394/). *Indian Dermatol Online J*. [Epidemiology / Natural History]
Balestri R (2025). [PMID: 40178867](https://pubmed.ncbi.nlm.nih.gov/40178867/). *Ital J Dermatol Venerol*. [Case Report / Case Series]
Chandra Konda S (2025). [PMID: 38595014](https://pubmed.ncbi.nlm.nih.gov/38595014/). *Indian J Dermatol Venereol Leprol*. [Other]
Gabriel JA (2024). [PMID: 39741925](https://pubmed.ncbi.nlm.nih.gov/39741925/). *Br J Biomed Sci*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604536

Orphanet

European rare disease database

Orphanet:158668

GARD

Genetic and Rare Diseases Info Center

GARD:9705

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 due to plakophilin deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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