Overview
Neurocutaneous syndrome with epilepsy is an extremely rare condition that belongs to a group of disorders known as neurocutaneous syndromes (also sometimes called phakomatoses). These are conditions that affect both the skin and the nervous system at the same time. In this particular syndrome, patients develop skin abnormalities alongside seizures (epilepsy) as a core feature. The skin findings may include unusual birthmarks, patches of differently colored skin, or other visible changes. The epilepsy component means that the brain has abnormal electrical activity that leads to repeated seizures, which can vary in type and severity from person to person. Because this is such a rare condition, detailed information about its full range of symptoms, underlying genetic cause, and best treatment approaches is limited. Treatment is generally focused on managing symptoms, particularly controlling seizures with anti-epileptic medications and addressing any skin-related concerns. A team of specialists including neurologists and dermatologists typically works together to provide care. Some patients may also experience developmental delays or learning difficulties, though the severity can vary widely. Early diagnosis and seizure management are important for improving quality of life and developmental outcomes.
Key symptoms:
Seizures or epilepsySkin abnormalities such as unusual birthmarks or pigment changesDevelopmental delaysLearning difficultiesIntellectual disability in some casesAbnormal skin patches or lesionsPossible behavioral challengesPossible vision problemsPossible movement difficulties
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Neurocutaneous syndrome with epilepsy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Neurocutaneous syndrome with epilepsy at this time.
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Rare Disease Specialist
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 Neurocutaneous syndrome with epilepsy.
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Caregiver Resources
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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 type of seizures does my child have, and what is the best medication to control them?,Are there any genetic tests that could help identify the exact cause of this condition?,What should I do if a seizure lasts longer than 5 minutes?,How often should we have follow-up brain imaging or EEG testing?,Are there any clinical trials or research studies we could participate in?,What developmental therapies would benefit my child the most?,Could this condition be passed on to future children?
Common questions about Neurocutaneous syndrome with epilepsy
What is Neurocutaneous syndrome with epilepsy?
Neurocutaneous syndrome with epilepsy is an extremely rare condition that belongs to a group of disorders known as neurocutaneous syndromes (also sometimes called phakomatoses). These are conditions that affect both the skin and the nervous system at the same time. In this particular syndrome, patients develop skin abnormalities alongside seizures (epilepsy) as a core feature. The skin findings may include unusual birthmarks, patches of differently colored skin, or other visible changes. The epilepsy component means that the brain has abnormal electrical activity that leads to repeated seizure
Which specialists treat Neurocutaneous syndrome with epilepsy?
8 specialists and care centers treating Neurocutaneous syndrome with epilepsy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.