epidermolytic palmoplantar keratoderma, 1
Findings
No curated finding names epidermolytic palmoplantar keratoderma, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.
Definition from the Mondo Disease Ontology (MONDO:0007758), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
16 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.
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- ClubbingHPOHP:0001217
- Frequent (30% to 79% of cases)
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- Frequent (30% to 79% of cases)
- Epidermal acanthosisHPOHP:0025092
- Frequent (30% to 79% of cases)
- Interphalangeal joint contracture of finger
Show the remaining 4
- HyperhidrosisHPOHP:0000975
- Occasional (5% to 29% of cases)
- Impaired tactile sensationHPOHP:0010830
- Occasional (5% to 29% of cases)
- Impaired temperature sensationHPOHP:0010829
- Occasional (5% to 29% of cases)
- Localized epidermolytic hyperkeratosisHPOHP:0007559
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.
- KRT9HGNC:6447
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: epidermolytic palmoplantar keratoderma, 1
- Also called
- diffuse erythrodermic palmoplantar keratoderma, VC6rner typediffuse erythrodermic palmoplantar keratoderma, Voerner typeepidermolytic palmoplantar keratoderma of VC6rnerepidermolytic palmoplantar keratoderma of VoernerEPPK