Overview
Leukoencephalopathy-palmoplantar keratoderma syndrome is an extremely rare genetic condition that affects both the brain's white matter and the skin. The name describes its two main features: leukoencephalopathy, which means damage or abnormal development of the white matter in the brain, and palmoplantar keratoderma, which refers to thickened, hardened skin on the palms of the hands and soles of the feet. White matter is the tissue in the brain that helps nerve cells communicate with each other, so when it is damaged, people may experience neurological problems such as difficulty with movement, coordination, thinking, and speech. The skin changes typically appear as thick, rough patches on the hands and feet that can be uncomfortable or painful. Neurological symptoms may include progressive difficulty walking, muscle stiffness or spasticity, and cognitive decline over time. The severity and progression of symptoms can vary between affected individuals. Because this condition is so rare, treatment options are currently limited to managing symptoms. There is no known cure. Care typically involves a team of specialists who address both the neurological and skin-related aspects of the disease. Physical therapy, medications for spasticity, and skin care treatments may help improve quality of life.
Key symptoms:
Thickened, hardened skin on palms and solesDifficulty walking or unsteady gaitMuscle stiffness or spasticityProgressive decline in thinking and memorySpeech difficultiesLoss of coordinationWhite matter abnormalities on brain MRIWeakness in the arms or legsDifficulty with fine motor tasksNumbness or tingling in hands and feet
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Leukoencephalopathy-palmoplantar keratoderma syndrome.
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Specialists
View all specialists →No specialists are currently listed for Leukoencephalopathy-palmoplantar keratoderma syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Leukoencephalopathy-palmoplantar keratoderma syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the white matter involvement on my brain MRI, and what does that mean for my future?,What treatments can help manage the thickened skin on my hands and feet?,Should I have genetic testing, and would it help my family members understand their risk?,How often should I have follow-up brain MRI scans and neurological evaluations?,What therapies (physical, occupational, speech) would benefit me most right now?,Are there any clinical trials or research studies I could participate in?,What should I watch for that would require urgent medical attention?
Common questions about Leukoencephalopathy-palmoplantar keratoderma syndrome
What is Leukoencephalopathy-palmoplantar keratoderma syndrome?
Leukoencephalopathy-palmoplantar keratoderma syndrome is an extremely rare genetic condition that affects both the brain's white matter and the skin. The name describes its two main features: leukoencephalopathy, which means damage or abnormal development of the white matter in the brain, and palmoplantar keratoderma, which refers to thickened, hardened skin on the palms of the hands and soles of the feet. White matter is the tissue in the brain that helps nerve cells communicate with each other, so when it is damaged, people may experience neurological problems such as difficulty with movemen
How is Leukoencephalopathy-palmoplantar keratoderma syndrome inherited?
Leukoencephalopathy-palmoplantar keratoderma syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.