National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Leukoencephalopathy palmoplantar keratoderma


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This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2386

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.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Hypertonia 0001276
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Unsteady gait
Unsteady walk
0002317
80%-99% of people have these symptoms
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
EEG with generalized slow activity 0010845
Pseudobulbar signs 0002200
Tetraparesis 0002273
30%-79% of people have these symptoms
Clumsiness 0002312
Diaphyseal dysplasia 0100252
Muscle weakness
Muscular weakness
0001324
Papule 0200034
Slurred speech 0001350
Toe walking
Toe-walking
0040083
5%-29% of people have these symptoms
Decreased number of peripheral myelinated nerve fibers 0003380
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
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Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Leukoencephalopathy palmoplantar keratoderma. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Leukoencephalopathy palmoplantar keratoderma:
    The National Registry for Ichthyosis & Related Skin Disorders
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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