Overview
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome (also known as PPK-HMSN syndrome, or sometimes called Charcot-Marie-Tooth disease with palmoplantar keratoderma) is a rare inherited condition that affects both the skin and the nervous system at the same time. The name describes the two main problems: 'palmoplantar keratoderma' means the skin on the palms of the hands and the soles of the feet becomes very thick and tough, and 'hereditary motor and sensory neuropathy' means the nerves that control movement and feeling in the arms and legs are damaged over time. People with this condition often notice thickened, sometimes painful skin on their hands and feet from early in life, along with weakness in the lower legs and feet, balance problems, and reduced ability to feel sensations like touch, heat, or pain in the hands and feet. The nerve damage tends to get slowly worse over time, which can make walking and daily tasks more difficult. There is currently no cure for this syndrome. Treatment focuses on managing symptoms — for example, using skin-softening creams and physical therapy to maintain strength and mobility. A team of specialists including neurologists and dermatologists usually work together to help patients live as comfortably as possible. Early diagnosis and regular monitoring are important to slow the impact on daily life.
Also known as:
Key symptoms:
Very thick, tough skin on the palms of the hands and soles of the feetMuscle weakness in the lower legs and feetDifficulty walking or frequent tripping and fallingReduced ability to feel touch, pain, or temperature in the hands and feetFoot deformities such as high arches or hammer toesLoss of muscle bulk in the lower legs, giving a 'stork leg' appearanceNumbness or tingling in the hands and feetBalance problemsPainful or cracked skin on the feet and handsSlow nerve conduction detected on nerve tests
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Palmoplantar keratoderma-hereditary motor and sensory neuropathy 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 Palmoplantar keratoderma-hereditary motor and sensory neuropathy 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.Which specific gene is causing my condition, and what does that mean for my family members?,How quickly is the nerve damage likely to progress, and what signs should I watch for?,What type of physiotherapy or exercise program is best for me right now?,Are there any clinical trials or new treatments I should know about?,What skin care routine do you recommend, and are there prescription creams that would help?,Should my children or siblings be tested for this condition?,What mobility aids or orthotics might help me, and how do I access them?
Common questions about Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
What is Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome?
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome (also known as PPK-HMSN syndrome, or sometimes called Charcot-Marie-Tooth disease with palmoplantar keratoderma) is a rare inherited condition that affects both the skin and the nervous system at the same time. The name describes the two main problems: 'palmoplantar keratoderma' means the skin on the palms of the hands and the soles of the feet becomes very thick and tough, and 'hereditary motor and sensory neuropathy' means the nerves that control movement and feeling in the arms and legs are damaged over time. People