Overview
Disease with focal palmoplantar keratoderma as a major feature refers to a group of rare genetic skin conditions where the main problem is thickened skin on specific areas of the palms of the hands and soles of the feet. The term "focal" means the thickening does not cover the entire palm or sole but instead appears in distinct patches or spots, often at pressure points or areas of repeated friction. Palmoplantar keratoderma (PPK) means abnormal thickening of the outer layer of skin (the epidermis) on the palms and soles. This group of conditions can range from mild cosmetic concerns to more significant problems that affect walking, gripping objects, and daily comfort. The thickened skin can crack and become painful, and in some cases may be associated with other features depending on the specific underlying genetic cause. Some forms may also involve nail changes, excessive sweating, or skin changes in other body areas. Treatment is mainly focused on managing symptoms. This includes regular use of moisturizers, keratolytic creams (which help soften and remove thickened skin), and sometimes careful trimming of calluses by a dermatologist. In more severe cases, oral retinoid medications may be considered. There is currently no cure for these genetic forms of keratoderma, but ongoing skin care can significantly improve comfort and quality of life. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Key symptoms:
Thickened skin patches on the palms of the handsThickened skin patches on the soles of the feetPainful calluses at pressure points on hands and feetCracking or fissuring of thickened skinDifficulty walking due to painful solesDifficulty gripping objects due to thickened palmsBlistering at sites of frictionNail thickening or abnormal nailsExcessive sweating of hands and feetRedness around thickened skin areasSkin lesions that worsen with physical activity or pressure
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 Disease with focal palmoplantar keratoderma as a major feature.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Disease with focal palmoplantar keratoderma as a major feature at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Disease with focal palmoplantar keratoderma as a major feature.
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 Disease with focal palmoplantar keratoderma as a major feature.
Community
No community posts yet. Be the first to share your experience with Disease with focal palmoplantar keratoderma as a major feature.
Start the conversation →Latest news about Disease with focal palmoplantar keratoderma as a major feature
No recent news articles for Disease with focal palmoplantar keratoderma as a major feature.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What specific type of focal palmoplantar keratoderma do I or my child have?,Should we pursue genetic testing to identify the exact gene involved?,What is the best daily skin care routine for managing the thickened skin?,Are oral retinoids appropriate in my case, and what are the risks?,How can I prevent painful cracking and skin infections?,Is this condition likely to get worse over time?,What is the chance of passing this condition to my children?
Common questions about Disease with focal palmoplantar keratoderma as a major feature
What is Disease with focal palmoplantar keratoderma as a major feature?
Disease with focal palmoplantar keratoderma as a major feature refers to a group of rare genetic skin conditions where the main problem is thickened skin on specific areas of the palms of the hands and soles of the feet. The term "focal" means the thickening does not cover the entire palm or sole but instead appears in distinct patches or spots, often at pressure points or areas of repeated friction. Palmoplantar keratoderma (PPK) means abnormal thickening of the outer layer of skin (the epidermis) on the palms and soles. This group of conditions can range from mild cosmetic concerns to more