Isolated focal non-epidermolytic palmoplantar keratoderma

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ORPHA:448264OMIM:613000L98.8
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Overview

Isolated focal non-epidermolytic palmoplantar keratoderma is a rare skin condition that causes thick, hardened patches of skin on specific areas of the palms of the hands and soles of the feet. The word 'focal' means the thickening does not cover the entire palm or sole but instead appears in distinct spots, usually in areas that experience the most pressure or friction, such as the balls of the feet or the base of the fingers. The term 'non-epidermolytic' refers to the type of skin changes seen under a microscope — in this form, the skin cells thicken without the blistering or cell breakdown seen in some other types of palmoplantar keratoderma. People with this condition often notice painful callus-like patches that can crack or fissure, making walking or gripping objects uncomfortable. The thickened skin may appear yellowish and waxy. Unlike some related conditions, this form is 'isolated,' meaning it affects only the palms and soles without involvement of other organs or body systems. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving comfort. This typically includes regular use of moisturizers, keratolytic creams (which help soften and remove thickened skin), and careful trimming or filing of calluses by a dermatologist or podiatrist. In more severe cases, oral retinoids may be prescribed to help reduce skin thickening. With consistent care, most people can manage their symptoms effectively and maintain a good quality of life.

Key symptoms:

Thick, hardened patches of skin on the palmsThick, hardened patches of skin on the soles of the feetPainful calluses in pressure-bearing areasCracking or fissuring of thickened skinYellowish or waxy appearance of affected skinDiscomfort or pain when walkingDifficulty gripping objects due to thickened palm skinSkin that peels or flakes in affected areasTenderness at pressure points on hands and feet

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 ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated focal non-epidermolytic palmoplantar keratoderma.

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No actively recruiting trials found for Isolated focal non-epidermolytic palmoplantar keratoderma at this time.

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No specialists are currently listed for Isolated focal non-epidermolytic palmoplantar keratoderma.

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 Isolated focal non-epidermolytic palmoplantar keratoderma.

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Community

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Latest news about Isolated focal non-epidermolytic palmoplantar keratoderma

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What type of palmoplantar keratoderma do I have, and how was it diagnosed?,Should I have genetic testing, and would it help my family members?,What is the best daily skin care routine for managing my symptoms?,Are there prescription creams or medications that could help reduce the thickened skin?,How often should I see a dermatologist or podiatrist for skin maintenance?,Are there any activities I should avoid to prevent worsening of my symptoms?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Isolated focal non-epidermolytic palmoplantar keratoderma

What is Isolated focal non-epidermolytic palmoplantar keratoderma?

Isolated focal non-epidermolytic palmoplantar keratoderma is a rare skin condition that causes thick, hardened patches of skin on specific areas of the palms of the hands and soles of the feet. The word 'focal' means the thickening does not cover the entire palm or sole but instead appears in distinct spots, usually in areas that experience the most pressure or friction, such as the balls of the feet or the base of the fingers. The term 'non-epidermolytic' refers to the type of skin changes seen under a microscope — in this form, the skin cells thicken without the blistering or cell breakdown