epidermolysis bullosa simplex 1C, localized
Findings
No curated finding names epidermolysis bullosa simplex 1C, localized yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Definition from the Mondo Disease Ontology (MONDO:0007551), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Palmoplantar blisteringHPOHP:0007446
- 59 of 59 reported patients
- Very frequent (80% to 99% of cases)
- Stratum basale cleavageHPOHP:0034193
- 1 of 1 reported patient
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Focal friction-related palmoplantar hyperkeratosisHPOHP:0007497
- Very frequent (80% to 99% of cases)
- Foot painHPOHP:0025238
- Very frequent (80% to 99% of cases)
- Lamina lucida cleavageHPOHP:0003341
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Upper limb painHPOHP:0012513
- Frequent (30% to 79% of cases)
- Erosion of oral mucosaHPOHP:0031446
- Occasional (5% to 29% of cases)
- HyperhidrosisHPOHP:0000975
- Occasional (5% to 29% of cases)
- Palmar hyperkeratosisHPOHP:0010765
- Occasional (5% to 29% of cases)
- Plantar hyperkeratosisHPOHP:0007556
- Occasional (5% to 29% of cases)
- Skin erosionHPOHP:0200041
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
- KRT14HGNC:6416
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT5HGNC:6442
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- ITGB4HGNC:6158
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: epidermolysis bullosa simplex 1C, localized
- Also called
- EBS-locepidermolysis bullosa simplex of palms and solesepidermolysis bullosa simplex, Weber-Cockayne typelocalised epidermolysis bullosa simplexlocalized epidermolysis bullosa simplex