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leukoencephalopathy-palmoplantar keratoderma syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukoencephalopathy-palmoplantar keratoderma syndrome

MONDO:0016545

Also known as:leukoencephalopathy palmoplantar keratoderma

Overview

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.

Diagnosis

Biomarker and diagnostic research for leukoencephalopathy-palmoplantar keratoderma syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for leukoencephalopathy-palmoplantar keratoderma syndrome.

84 publications have been identified in PubMed for leukoencephalopathy-palmoplantar keratoderma syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (7%).

Research Type	Count	% of Total
Patient case studies	42	50%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2386

GARD

Genetic and Rare Diseases Info Center

GARD:3232

Questions for Your Care Team

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leukoencephalopathy-palmoplantar keratoderma syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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