diffuse nonepidermolytic palmoplantar keratoderma
Findings
No curated finding names diffuse nonepidermolytic palmoplantar keratoderma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.
Definition from the Mondo Disease Ontology (MONDO:0010962), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Nonepidermolytic palmoplantar hyperkeratosisHPOHP:0007404
- Obligate (100% of cases)
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- Very frequent (80% to 99% of cases)
- Abnormal umbilicus morphologyHPOHP:0001551
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- ErythemaHPOHP:0010783
- Frequent (30% to 79% of cases)
- Unusual fungal nail infection
Genes
2 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.
Where it sits
Other names
6 names
Resolves to: diffuse nonepidermolytic palmoplantar keratoderma
- Also called
- diffuse palmoplantar keratoderma, Bothnian typeKRT1-related diffuse nonepidermolytic keratodermaNEPPKnon-epidermolytic palmoplantar keratodermanonepidermolytic palmoplantar keratodermapalmoplantar keratoderma, nonepidermolytic