Overview
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature refers to a group of rare inherited skin conditions where the skin on the palms of the hands and soles of the feet becomes abnormally thick, hard, and calloused. The term 'diffuse' means the thickening covers most or all of the palms and soles rather than appearing in patches. Because this is an autosomal recessive condition, a child must inherit a faulty gene copy from both parents to develop the disease. The thickened skin can be uncomfortable and may crack or become painful, especially with physical activity or in dry conditions. In some forms, the skin changes may extend beyond the palms and soles to other areas of the body. Depending on the specific genetic cause, additional features such as nail changes, hair abnormalities, or other organ involvement may also be present. There is currently no cure for these conditions. Treatment focuses on managing symptoms and improving quality of life. This typically includes regular use of moisturizers and keratolytic agents (creams that help soften and remove thickened skin), careful foot care, and sometimes the use of oral retinoids in more severe cases. Dermatologists and clinical geneticists work together to identify the specific subtype and tailor treatment accordingly. Early diagnosis through genetic testing can help families understand the condition and plan appropriate care.
Also known as:
Key symptoms:
Thick, hardened skin on the palms of the handsThick, hardened skin on the soles of the feetCracking or fissuring of thickened skinPain or discomfort when walking or using handsRedness of the palms and solesExcessive sweating of hands and feetUnpleasant odor from affected skinNail changes such as thickening or discolorationSkin peeling on hands and feetCallus-like formations that do not go awayDifficulty gripping objects due to thick skinBlistering in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive 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 Autosomal recessive 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
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 genetic subtype of palmoplantar keratoderma do I or my child have?,Are there any additional health problems associated with this specific subtype that we should watch for?,What is the best daily skin care routine to manage the thickened skin?,Would oral retinoids be appropriate, and what are the risks and benefits?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or new treatments being studied for this condition?,Can you refer us to a genetic counselor to discuss family planning?
Common questions about Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
What is Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature?
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature refers to a group of rare inherited skin conditions where the skin on the palms of the hands and soles of the feet becomes abnormally thick, hard, and calloused. The term 'diffuse' means the thickening covers most or all of the palms and soles rather than appearing in patches. Because this is an autosomal recessive condition, a child must inherit a faulty gene copy from both parents to develop the disease. The thickened skin can be uncomfortable and may crack or become painful, especially with physical activi
How is Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature inherited?
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.