Overview
Hereditary neurocutaneous malformation, also known as hereditary neurocutaneous angioma or neurocutaneous hemangioma, is a very rare condition that involves abnormal blood vessel growths (vascular malformations or hemangiomas) that affect both the skin and the nervous system. The condition is present from birth or early childhood and belongs to a group of disorders sometimes called neurocutaneous syndromes or phakomatoses, which are conditions where both the skin and the nervous system develop abnormally together. Patients may have visible red or purple birthmarks or growths on the skin (hemangiomas), along with similar vascular malformations in the brain or spinal cord. Depending on the location and size of these malformations, symptoms can range from mild skin findings to more serious neurological problems such as seizures, headaches, weakness, or developmental delays. The severity varies widely from person to person, even within the same family. Because this condition is extremely rare, treatment is mainly supportive and symptom-based. Vascular malformations on the skin may be treated with laser therapy or surgery if needed. Neurological symptoms such as seizures are managed with standard medications. Regular monitoring with brain imaging is important to watch for changes in any internal vascular malformations. A team of specialists including dermatologists, neurologists, and neurosurgeons typically work together to manage care.
Key symptoms:
Red or purple birthmarks on the skin (hemangiomas)Vascular growths in the brain or spinal cordSeizures or epilepsyHeadachesMuscle weakness on one side of the bodyDevelopmental delaysVision problemsSkin discoloration or raised skin lesionsNumbness or tinglingDifficulty with balance or coordinationLearning difficulties
Clinical phenotype terms (4)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventKing's College London
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hereditary neurocutaneous malformation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hereditary neurocutaneous malformation at this time.
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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 Hereditary neurocutaneous malformation.
Community
No community posts yet. Be the first to share your experience with Hereditary neurocutaneous malformation.
Start the conversation →Latest news about Hereditary neurocutaneous malformation
Disease timeline:
New recruiting trial: Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Feasibility and Tolerability of IMLYGIC for the Treatment of Cutaneous Neurofibromas in Adults With NF1
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Real-World Treatment Study of Koselugo (Selumetinib)
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Mind and Skin - the Neurocutaneous Axis in Atopic Eczema
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE)
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Glioma Developmental and HyperActive Ras Tumor (DHART) Board
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Development of Patient-Reported Outcome Measures Assessing Tumor Visibility and Appearance Concerns in Neurofibromatosis Type 1: A Qualitative Study
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
New recruiting trial: Clinical and Demographic Characteristics of Adult p Atients With NEurofibromatosis in RUSsia
A new clinical trial is recruiting patients for Hereditary neurocutaneous malformation
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 is the exact location and size of the vascular malformations in my child's brain or spine?,How often should we have MRI scans to monitor for changes?,What are the warning signs that a vascular malformation is bleeding?,Are there any activity restrictions we should follow?,Should other family members be screened for this condition?,What treatment options are available if the vascular malformations grow or cause new symptoms?,Are there any clinical trials or research studies we could participate in?
Common questions about Hereditary neurocutaneous malformation
What is Hereditary neurocutaneous malformation?
Hereditary neurocutaneous malformation, also known as hereditary neurocutaneous angioma or neurocutaneous hemangioma, is a very rare condition that involves abnormal blood vessel growths (vascular malformations or hemangiomas) that affect both the skin and the nervous system. The condition is present from birth or early childhood and belongs to a group of disorders sometimes called neurocutaneous syndromes or phakomatoses, which are conditions where both the skin and the nervous system develop abnormally together. Patients may have visible red or purple birthmarks or growths on the skin (hema
At what age does Hereditary neurocutaneous malformation typically begin?
Typical onset of Hereditary neurocutaneous malformation is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Hereditary neurocutaneous malformation?
23 specialists and care centers treating Hereditary neurocutaneous malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.