Living with Hereditary neurocutaneous angiomata
A rare genetic condition with clusters of abnormal blood vessels in the skin, brain, and spinal cord.
Understanding Hereditary neurocutaneous angiomata
Growths in the brain and spinal cord tend to bleed. It starts in infancy or childhood. GARD notes it has not been described in the medical literature since 1988.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Strawberry-colored skin marks (hemangioma)
- Horner syndrome (eyelid droop and small pupil on one side)
- Differences in the nervous system
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hemangiomatosis, disseminated; hereditary neurocutaneous angioma; hereditary neurocutaneous malformation; hereditary neurocutaneous vascular malformations; spinal arterial venous malformations with cutaneous hemangiomas
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary neurocutaneous angiomata.
Explore research for Hereditary neurocutaneous angiomata
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