Overview
Erythrokeratoderma variabilis et progressiva (EKVP), sometimes called erythrokeratoderma variabilis progressiva, is a rare inherited skin disorder that affects how the outer layer of skin develops and maintains itself. The condition is characterized by two main features: areas of red, inflamed skin (erythema) that can change in shape, size, and location over hours or days, and thickened, rough patches of skin (hyperkeratosis) that tend to be more fixed in location and may slowly worsen over time. These skin changes often appear in infancy or early childhood and can affect various parts of the body, including the arms, legs, buttocks, and face. The disease is caused by mutations in genes that code for connexin proteins, which are essential for communication between skin cells. When these proteins do not work properly, the skin cannot regulate its growth and turnover normally, leading to the characteristic patches of redness and thickening. The severity of EKVP varies widely, even among members of the same family. Some people have mild, manageable symptoms, while others experience more widespread and bothersome skin involvement. There is currently no cure for EKVP. Treatment focuses on managing symptoms and improving skin comfort and appearance. Topical moisturizers and emollients are the foundation of care, helping to soften thickened skin. Oral retinoids, such as acitretin, can be effective in reducing skin thickening and redness in more severe cases, though they require careful monitoring due to potential side effects. Keratolytic agents containing urea or salicylic acid may also help remove excess skin. With appropriate skin care and medical management, most individuals with EKVP lead full and active lives.
Key symptoms:
Red patches on the skin that change shape and locationThickened, rough, scaly patches of skinDry skinItching of affected skin areasSkin redness that worsens with temperature changes or stressThickened skin on the palms of the handsThickened skin on the soles of the feetSkin patches on the arms, legs, buttocks, or faceWorsening of skin thickening over timeSkin that appears darker or discolored in affected areas
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Erythrokeratoderma variabilis progressiva.
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Specialists
View all specialists →No specialists are currently listed for Erythrokeratoderma variabilis progressiva.
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 Erythrokeratoderma variabilis progressiva.
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 gene mutation is causing my or my child's condition?,What are the best daily skin care products and routines for managing symptoms?,Would oral retinoids be appropriate, and what are the risks and benefits?,How likely is it that my other children or future children could inherit this condition?,Are there any clinical trials or new treatments being studied for EKVP?,Should I see a genetic counselor to understand the inheritance pattern in my family?,What should I do if the skin becomes infected or symptoms suddenly worsen?
Common questions about Erythrokeratoderma variabilis progressiva
What is Erythrokeratoderma variabilis progressiva?
Erythrokeratoderma variabilis et progressiva (EKVP), sometimes called erythrokeratoderma variabilis progressiva, is a rare inherited skin disorder that affects how the outer layer of skin develops and maintains itself. The condition is characterized by two main features: areas of red, inflamed skin (erythema) that can change in shape, size, and location over hours or days, and thickened, rough patches of skin (hyperkeratosis) that tend to be more fixed in location and may slowly worsen over time. These skin changes often appear in infancy or early childhood and can affect various parts of the
How is Erythrokeratoderma variabilis progressiva inherited?
Erythrokeratoderma variabilis progressiva follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Erythrokeratoderma variabilis progressiva typically begin?
Typical onset of Erythrokeratoderma variabilis progressiva is infantile. Age of onset can vary across affected individuals.