leukoencephalopathy-palmoplantar keratoderma syndrome
MONDO:0016545Mondo
Findings
No curated finding names leukoencephalopathy-palmoplantar keratoderma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
Definition from the Mondo Disease Ontology (MONDO:0016545), read 2026-09-29. CC BY 4.0.
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.
- Cognitive impairmentHPOHP:0100543
- Obligate (100% of cases)
- HypertoniaHPOHP:0001276
- Obligate (100% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Obligate (100% of cases)
- Unsteady gaitHPOHP:0002317
- Obligate (100% of cases)
- DementiaHPOHP:0000726
- Very frequent (80% to 99% of cases)
- EEG with generalized slow activityHPOHP:0010845
- Very frequent (80% to 99% of cases)
- Pseudobulbar signsHPO
Show the remaining 4
- Slurred speechHPOHP:0001350
- Frequent (30% to 79% of cases)
- Tip-toe gaitHPOHP:0030051
- Frequent (30% to 79% of cases)
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
Where it sits
- A kind of