Living with Neurocutaneous melanocytosis
A rare condition, not inherited, with dark moles on the skin and in the brain, noticed at birth and in the first years of life.
Understanding Neurocutaneous melanocytosis
It is not inherited. Two-thirds of people have giant congenital melanocytic nevi (large moles present at birth). The rest have many smaller lesions. Skin lesions are present at birth. Nervous system signs usually show up in the first or second year, most often as high pressure inside the skull, along with seizures and less alertness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Many moles present at birth (congenital melanocytic nevi)
- Seizures
- Higher pressure inside the skull
- Extra fluid in the brain (hydrocephalus)
- Intellectual disability
- Thickened or darker skin
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 and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease 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
The underlying cause is not completely understood. It is believed to be a primary defect in the neural crest, a group of cells in early development.
Also known as: ncm; ncms; neurocutaneous melanosis; neurocutaneous melanosis, somatic; neuromelanosis
Patient organizations
- Children's Skin Disease FoundationSkin diseases · 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 Neurocutaneous melanocytosis.
Explore research for Neurocutaneous melanocytosis
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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