Overview
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is a very rare inherited skin condition that primarily affects the skin on the palms of the hands and the soles of the feet. The term "palmoplantar keratoderma" means thickening of the skin (keratoderma) on the palms (palmo-) and soles (plantar). In this specific form, the thickening occurs in a focal pattern, meaning it develops in certain pressure-bearing areas rather than covering the entire palm or sole. A distinguishing feature of this condition is the development of blisters on the soles of the feet, which can be painful and may interfere with walking and daily activities. The term "non-epidermolytic" refers to the fact that, when examined under a microscope, the skin cells do not show a specific type of breakdown pattern seen in some other forms of keratoderma. Because this is an autosomal dominant condition, only one copy of the altered gene (inherited from one parent) is needed to cause the disease. Symptoms typically develop in childhood or early adulthood and may worsen with physical activity or friction on the feet. Treatment is mainly supportive and focuses on managing symptoms. This includes regular use of moisturizers, keratolytic agents (creams that help soften and remove thickened skin), protective footwear, and careful wound care for blisters. There is currently no cure for this condition, and management is lifelong.
Key symptoms:
Thickened skin on the palms of the handsThickened skin on the soles of the feetBlisters on the soles of the feetPain when walking or standingCallus-like patches on pressure points of the feetSkin tenderness on the solesDifficulty walking due to foot painWorsening of symptoms with physical activity or frictionCracking or fissuring of thickened skinDiscomfort when wearing shoes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering.
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 dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering.
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 palmoplantar keratoderma does my family member have, and how was this determined?,Is genetic testing recommended, and what would the results mean for other family members?,What is the best daily skin care routine to manage the thickening and prevent blisters?,Are there any medications that could help reduce the severity of symptoms?,How should I care for blisters at home, and when should I seek medical attention for them?,What type of footwear or orthotics do you recommend?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
What is Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering?
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is a very rare inherited skin condition that primarily affects the skin on the palms of the hands and the soles of the feet. The term "palmoplantar keratoderma" means thickening of the skin (keratoderma) on the palms (palmo-) and soles (plantar). In this specific form, the thickening occurs in a focal pattern, meaning it develops in certain pressure-bearing areas rather than covering the entire palm or sole. A distinguishing feature of this condition is the development of blisters on the soles of the fe
How is Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering inherited?
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.