Overview
Disease with diffuse palmoplantar keratoderma as a major feature refers to a group of rare genetic skin conditions where the main problem is a widespread thickening of the skin on the palms of the hands and the soles of the feet. The term 'diffuse' means the thickening covers most or all of the palms and soles, rather than appearing in patches or spots. 'Keratoderma' means abnormal thickening of the outer layer of skin (the keratin layer). This group of conditions can appear on its own or alongside other symptoms affecting the hair, nails, teeth, sweat glands, or other organs depending on the specific underlying cause. The thickened skin can be painful, may crack or fissure, and can make it difficult to walk comfortably or use the hands for fine tasks. In some forms, the skin may also have a yellowish color and an unpleasant odor due to excessive sweating or bacterial overgrowth in the thickened skin. The severity can range from mild cosmetic concern to significant disability. Treatment is mainly supportive and symptom-based. There is no single cure for these conditions. Management typically includes regular use of moisturizers, keratolytic agents (creams that help soften and remove thickened skin, such as those containing urea or salicylic acid), and sometimes oral retinoids like acitretin for more severe cases. Proper footwear and hand care are also important parts of daily management.
Key symptoms:
Thick, hard skin on the palms of the handsThick, hard skin on the soles of the feetPainful cracks or fissures in the skin of hands and feetYellowish discoloration of the palms and solesDifficulty walking due to painful feetExcessive sweating of hands and feetUnpleasant odor from affected skinThickened or abnormal fingernails or toenailsRedness around the edges of thickened skinBlistering in some formsSkin infections in cracked areasDifficulty gripping objectsTightening or constriction of skin around fingers or toes in some forms
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 diffuse palmoplantar keratoderma as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Disease with diffuse 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 diffuse palmoplantar keratoderma as a major feature.
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.What specific type of palmoplantar keratoderma do I or my child have, and what gene is involved?,Are there any other organs that could be affected by this condition, such as the heart?,What is the best daily skin care routine for managing the thickened skin?,Would oral retinoids be appropriate, and what are the risks and benefits?,Is genetic testing recommended for other family members?,What are the chances of passing this condition to future children?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Disease with diffuse palmoplantar keratoderma as a major feature
What is Disease with diffuse palmoplantar keratoderma as a major feature?
Disease with diffuse palmoplantar keratoderma as a major feature refers to a group of rare genetic skin conditions where the main problem is a widespread thickening of the skin on the palms of the hands and the soles of the feet. The term 'diffuse' means the thickening covers most or all of the palms and soles, rather than appearing in patches or spots. 'Keratoderma' means abnormal thickening of the outer layer of skin (the keratin layer). This group of conditions can appear on its own or alongside other symptoms affecting the hair, nails, teeth, sweat glands, or other organs depending on the