Overview
Autosomal recessive punctate palmoplantar keratoderma is an extremely rare inherited skin condition that primarily affects the palms of the hands and the soles of the feet. The term 'punctate palmoplantar keratoderma' refers to the development of small, hard, raised bumps or thickened spots of skin (called keratoses) scattered across the palms and soles. In this particular form, the condition follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty copy of the responsible gene from both parents to develop the disease. The thickened skin spots can cause discomfort, pain when walking or gripping objects, and may crack or become irritated over time. The severity can vary from person to person. Because this is such a rare condition, the full range of associated features and the natural history of the disease are not yet completely understood. There is currently no cure for this condition. Treatment is mainly supportive and focuses on managing the skin symptoms. This may include regular use of moisturizers, keratolytic creams (which help soften and remove thickened skin), and careful foot care. In some cases, a dermatologist may recommend more targeted treatments to reduce discomfort and improve quality of life. Genetic counseling is recommended for affected families to understand the risk of passing the condition to future children.
Also known as:
Key symptoms:
Small hard bumps on the palms of the handsSmall hard bumps on the soles of the feetThickened patches of skin on palms and solesPain or tenderness when walkingDiscomfort when gripping objectsCracking or fissuring of thickened skinDry skin on hands and feetCallus-like spots scattered across palms and soles
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 associated with punctate palmoplantar keratoderma as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive disease associated with punctate 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 associated with punctate palmoplantar keratoderma as a major feature.
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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 does my child or I have?,Is genetic testing available to confirm the diagnosis?,What skin care routine do you recommend for managing the thickened skin?,Are there prescription creams or medications that could help?,What are the risks and benefits of retinoid therapy for this condition?,How often should we schedule follow-up appointments?,Should other family members be tested or evaluated?
Common questions about Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
What is Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature?
Autosomal recessive punctate palmoplantar keratoderma is an extremely rare inherited skin condition that primarily affects the palms of the hands and the soles of the feet. The term 'punctate palmoplantar keratoderma' refers to the development of small, hard, raised bumps or thickened spots of skin (called keratoses) scattered across the palms and soles. In this particular form, the condition follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty copy of the responsible gene from both parents to develop the disease. The thickened skin spots can cause discomf
How is Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature inherited?
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.