Overview
Erythrokeratodermia variabilis (EKV), also known as Mendes da Costa syndrome or erythrokeratodermia variabilis et 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: red patches on the skin that can change in shape, size, and location over hours or days (called transient erythematous patches), and thickened, rough areas of skin (called hyperkeratotic plaques) that tend to be more fixed in location. These skin changes can appear anywhere on the body but are most commonly found on the limbs, buttocks, and face. Symptoms usually begin in infancy or early childhood, often within the first year of life. The redness of the skin can be triggered or worsened by temperature changes, emotional stress, or physical activity. The thickened skin patches tend to develop gradually and may become more stable over time, though the red patches often continue to come and go throughout life. There is currently no cure for EKV. Treatment focuses on managing symptoms and improving skin comfort and appearance. Moisturizers and emollients are used regularly to soften thickened skin. Oral retinoids, such as acitretin, have been shown to be helpful in reducing the thickness and scaling of the skin in many patients. Topical keratolytics (creams that help remove thickened skin) may also be used. With proper skin care and treatment, many people with EKV lead full and active lives, though the condition is lifelong and requires ongoing management.
Also known as:
Key symptoms:
Red patches on the skin that change shape and locationThickened, rough, scaly patches of skinDry skinItching of affected skin areasSkin redness triggered by temperature changes or stressThickened skin on the palms of the handsThickened skin on the soles of the feetSkin patches that may appear darker or lighter than surrounding skinRough texture of the skin surfaceSkin tightness or discomfort in affected areasRedness on the face, arms, and legs
Clinical phenotype terms (29)— hover any for plain English
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 Erythrokeratodermia variabilis.
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Specialists
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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 Erythrokeratodermia variabilis.
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 type of EKV does my child or I have, and which gene is affected?,Would oral retinoids be appropriate, and what are the risks and benefits?,What is the best daily skin care routine for managing symptoms?,Are there specific triggers I should avoid to prevent flare-ups?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for EKV?,Can you recommend a counselor or support group for coping with the emotional impact of this condition?
Common questions about Erythrokeratodermia variabilis
What is Erythrokeratodermia variabilis?
Erythrokeratodermia variabilis (EKV), also known as Mendes da Costa syndrome or erythrokeratodermia variabilis et 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: red patches on the skin that can change in shape, size, and location over hours or days (called transient erythematous patches), and thickened, rough areas of skin (called hyperkeratotic plaques) that tend to be more fixed in location. These skin changes can appear anywhere on the body but are most commonly found
How is Erythrokeratodermia variabilis inherited?
Erythrokeratodermia variabilis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Erythrokeratodermia variabilis typically begin?
Typical onset of Erythrokeratodermia variabilis is infantile. Age of onset can vary across affected individuals.