Genetic acrokeratoderma

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Overview

Genetic acrokeratoderma is a rare inherited skin condition that primarily affects the hands and feet. The term 'acrokeratoderma' comes from Greek words meaning thickening of the skin at the extremities. In this condition, the skin on the palms of the hands and soles of the feet becomes abnormally thick, tough, and sometimes painful. This thickening is called keratoderma or hyperkeratosis, and it happens because the outer layer of skin (the epidermis) produces too much of a tough protein called keratin. People with genetic acrokeratoderma may notice that the skin on their palms and soles looks different from an early age. The thickened skin can crack, peel, or become uncomfortable, especially with physical activity or in dry weather. In some cases, the thickening may also extend to the tops of the hands and feet or to other areas of the body. There is currently no cure for genetic acrokeratoderma. Treatment focuses on managing symptoms and improving skin comfort. This typically includes regular use of moisturizers, keratolytic agents (creams that help soften and remove thickened skin), and sometimes retinoid medications. With proper skin care, many people with this condition can manage their symptoms effectively and maintain a good quality of life.

Key symptoms:

Thickened skin on the palms of the handsThickened skin on the soles of the feetCracking or peeling of thickened skinRough or tough texture of skin on hands and feetPain or discomfort when walking or gripping objectsYellowish or waxy appearance of affected skinCallus-like patches on the hands and feetDry skin on the extremitiesBlistering in some casesDifficulty with fine hand movements due to skin stiffness

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 Genetic acrokeratoderma.

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No actively recruiting trials found for Genetic acrokeratoderma at this time.

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No specialists are currently listed for Genetic acrokeratoderma.

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 Genetic acrokeratoderma.

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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 genetic acrokeratoderma do I or my child have, and is genetic testing recommended?,What is the best daily skin care routine to manage the thickened skin?,Are there prescription medications like retinoids that might help, and what are the risks?,How can I tell if the cracked skin has become infected, and when should I seek urgent care?,Is this condition likely to get better or worse over time?,Should other family members be tested or evaluated?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Genetic acrokeratoderma

What is Genetic acrokeratoderma?

Genetic acrokeratoderma is a rare inherited skin condition that primarily affects the hands and feet. The term 'acrokeratoderma' comes from Greek words meaning thickening of the skin at the extremities. In this condition, the skin on the palms of the hands and soles of the feet becomes abnormally thick, tough, and sometimes painful. This thickening is called keratoderma or hyperkeratosis, and it happens because the outer layer of skin (the epidermis) produces too much of a tough protein called keratin. People with genetic acrokeratoderma may notice that the skin on their palms and soles looks