Disease with diffuse palmoplantar keratoderma as a major feature

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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.

Also known as:

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

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Disease with diffuse palmoplantar keratoderma as a major feature.

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No actively recruiting trials found for Disease with diffuse palmoplantar keratoderma as a major feature at this time.

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No specialists are currently listed for Disease with diffuse palmoplantar keratoderma as a major feature.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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.

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Community

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Caregiver Resources

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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