epidermolysis bullosa simplex due to plakophilin deficiency
Findings
No curated finding names epidermolysis bullosa simplex due to plakophilin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011472), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Absent eyebrowHPOHP:0002223
- 1 of 1 reported patient
- Absent eyelashesHPOHP:0000561
- 1 of 1 reported patient
- Alopecia of scalpHPOHP:0002293
- 1 of 1 reported patient
- AnhidrosisHPOHP:0000970
- 1 of 1 reported patient
- Dystrophic fingernailsHPOHP:0008391
- 1 of 1 reported patient
- Fragile skinHPO
Show the remaining 22
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Alopecia universalisHPOHP:0002289
- Frequent (30% to 79% of cases)
- Chapped lipHPOHP:0040181
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HypohidrosisHPOHP:0000966
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PKP1HGNC:9023
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: epidermolysis bullosa simplex due to plakophilin deficiency
- Also called
- ectodermal dysplasia-skin fragility syndromeMcGrath syndrome