Overview
Epidermal nevus syndrome (ENS) is a rare condition where patches of abnormal skin growth — called epidermal nevi — appear on the body and are linked to problems in other organ systems, especially the brain, eyes, and bones. The skin patches are usually present at birth or appear in early childhood. They often look like raised, warty, or velvety streaks or lines on the skin, and can be tan, brown, or darker than the surrounding skin. These patches follow patterns on the skin called Blaschko's lines, which trace the paths that skin cells travel during development before birth. Beyond the skin, ENS can affect the nervous system, causing seizures, intellectual disability, or developmental delays. Eye problems such as clouding of the eye or vision loss can also occur. Some people have skeletal issues like curved spine or limb differences. The severity varies widely — some people have only mild skin changes, while others have serious complications affecting multiple body systems. There is no cure for ENS. Treatment focuses on managing individual symptoms. Skin lesions can sometimes be removed with laser therapy, surgery, or other skin treatments. Seizures are managed with anti-seizure medications. A team of specialists is usually needed to address the different ways ENS can affect the body. Early diagnosis and regular monitoring are important to catch and treat complications as soon as possible.
Also known as:
Key symptoms:
Raised, warty, or velvety skin patches present from birth or early childhoodSkin patches arranged in lines or streaks following the body's natural growth patternsSeizures or epilepsyIntellectual disability or learning difficultiesDevelopmental delays in walking, talking, or other milestonesVision problems or eye abnormalitiesClouding of the lens or cornea of the eyeCurved spine (scoliosis) or other bone problemsLimb length differencesAbnormal head size (too large or too small)Kidney or urinary tract abnormalitiesHeart defects (in some cases)Skin that may become itchy or irritated over time
Clinical phenotype terms (26)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Epidermal nevus syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Epidermal nevus syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Epidermal nevus syndrome.
Community
No community posts yet. Be the first to share your experience with Epidermal nevus syndrome.
Start the conversation →Latest news about Epidermal nevus syndrome
No recent news articles for Epidermal nevus syndrome.
Follow this condition to be notified when news becomes available.
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.Which organs or body systems should we monitor, and how often?,Should we do genetic testing on the skin lesion, and what gene mutations should we look for?,What type of seizure treatment is best for my child, and what should I do if a seizure lasts more than five minutes?,Are there any clinical trials or new targeted therapies that might be appropriate based on the genetic mutation found?,What early intervention or educational support services should we access now?,How likely are the skin lesions to come back after treatment, and what are the best options for managing them?,Should other family members be tested or monitored for any related conditions?
Common questions about Epidermal nevus syndrome
What is Epidermal nevus syndrome?
Epidermal nevus syndrome (ENS) is a rare condition where patches of abnormal skin growth — called epidermal nevi — appear on the body and are linked to problems in other organ systems, especially the brain, eyes, and bones. The skin patches are usually present at birth or appear in early childhood. They often look like raised, warty, or velvety streaks or lines on the skin, and can be tan, brown, or darker than the surrounding skin. These patches follow patterns on the skin called Blaschko's lines, which trace the paths that skin cells travel during development before birth. Beyond the skin,
How is Epidermal nevus syndrome inherited?
Epidermal nevus syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epidermal nevus syndrome typically begin?
Typical onset of Epidermal nevus syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Epidermal nevus syndrome?
7 specialists and care centers treating Epidermal nevus syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.