Overview
Erythrokeratodermia-cardiomyopathy syndrome is a very rare genetic condition that affects two main parts of the body: the skin and the heart. The name describes its two key features — 'erythrokeratodermia' refers to areas of red, thickened, scaly skin, and 'cardiomyopathy' means the heart muscle does not work as well as it should. This condition is sometimes referred to by the abbreviation EKC syndrome. The skin problems usually appear early in life and can cause patches of rough, reddened, and thickened skin across different parts of the body. These patches may be uncomfortable and can affect a person's appearance and self-confidence. At the same time, the heart muscle becomes weakened or enlarged, which can make it harder for the heart to pump blood properly. This is called dilated cardiomyopathy and can lead to symptoms like tiredness, shortness of breath, and irregular heartbeats. Because this syndrome affects both the skin and the heart, care involves a team of specialists. Treatment focuses on managing symptoms — there is currently no cure. Skin care routines and moisturizers help with the skin, while heart medications and monitoring help protect heart function. Early diagnosis is very important so that heart problems can be caught and treated before they become serious.
Also known as:
Key symptoms:
Red, thickened, and scaly patches of skinRough or bumpy skin textureWeakened heart muscle (dilated cardiomyopathy)Fatigue and low energyShortness of breath, especially with activityIrregular or fast heartbeat (arrhythmia)Swelling in the legs or feet due to poor heart functionReduced ability to exercise or be physically activeSkin symptoms that may worsen in cold or dry weather
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Erythrokeratodermia-cardiomyopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Erythrokeratodermia-cardiomyopathy syndrome.
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-cardiomyopathy syndrome.
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.How severe is my heart condition right now, and what signs should I watch for that mean it is getting worse?,Should other members of my family be tested for this condition?,What heart medications are recommended for me, and what are the possible side effects?,Do I need a device like a defibrillator to protect my heart from dangerous rhythms?,What skin treatments are safest and most effective for my type of skin symptoms?,Are there any clinical trials or research studies I could join?,How often do I need follow-up appointments, and which specialists should I see regularly?
Common questions about Erythrokeratodermia-cardiomyopathy syndrome
What is Erythrokeratodermia-cardiomyopathy syndrome?
Erythrokeratodermia-cardiomyopathy syndrome is a very rare genetic condition that affects two main parts of the body: the skin and the heart. The name describes its two key features — 'erythrokeratodermia' refers to areas of red, thickened, scaly skin, and 'cardiomyopathy' means the heart muscle does not work as well as it should. This condition is sometimes referred to by the abbreviation EKC syndrome. The skin problems usually appear early in life and can cause patches of rough, reddened, and thickened skin across different parts of the body. These patches may be uncomfortable and can affec
How is Erythrokeratodermia-cardiomyopathy syndrome inherited?
Erythrokeratodermia-cardiomyopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Erythrokeratodermia-cardiomyopathy syndrome typically begin?
Typical onset of Erythrokeratodermia-cardiomyopathy syndrome is infantile. Age of onset can vary across affected individuals.