Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 51 peer-reviewed journal articles Updated
Neurology

Understanding Neurocutaneous Melanocytosis (NCM): A Guide for Patients and Families

At a Glance

Neurocutaneous melanocytosis (NCM) is a rare, non-inherited condition caused by an NRAS mutation. It causes pigment-producing cells to grow in the skin and central nervous system. Care involves MRI screening, managing neurological symptoms, and monitoring for complications like hydrocephalus.

Welcome to this comprehensive resource on Neurocutaneous Melanocytosis (NCM). A new diagnosis for you or your child can feel overwhelming and frightening, but understanding the biological roots of the condition is the first step toward taking back control. This guide is designed to translate the complex medical science of NCM into clear, actionable information so that you can effectively partner with your care team.

What is NCM?

NCM is a rare neurocutaneous syndrome characterized by the presence of pigment-producing cells (melanocytes) not just in the skin—as large or multiple Congenital Melanocytic Nevi (CMN)—but also within the central nervous system (the brain and spinal cord) [1][2]. It is important to know that this condition is the result of a random event during early embryonic development, driven by a postzygotic NRAS mutation [3][4]. It is not inherited, it was not caused by anything you did, and it cannot be passed to future siblings [5][6].

Navigating This Guide

This resource is broken down into specific topics to help you wherever you are in your journey:

01

Validation and Orientation: Understanding NCM

Learn about Neurocutaneous Melanocytosis (NCM), a rare condition linked to congenital melanocytic nevi (CMN). Understand NRAS mutations and key risk factors.

02

Diagnosis and Risk Stratification: Understanding the Criteria

Learn how doctors diagnose neurocutaneous melanocytosis (NCM). Understand risk factors like Projected Adult Size (PAS), satellite moles, and diagnostic criteria.

03

The Screening MRI: Why and When to Image

Learn when and why a screening MRI is needed for neurocutaneous melanocytosis (NCM). Understand the 6-month infant window, scan scope, and what to expect.

04

Neurological Symptoms and Warning Signs

Learn the neurological warning signs of Neurocutaneous Melanocytosis (NCM). Understand symptoms of hydrocephalus, seizures, and increased intracranial pressure.

05

Understanding Complications: Hydrocephalus and CNS Melanoma

Learn about Neurocutaneous Melanocytosis (NCM) complications, including hydrocephalus and CNS melanoma. Discover treatments like VP shunts and MEK inhibitors.

06

Standard of Care and Targeted Therapies

Discover treatment options for Neurocutaneous Melanocytosis (NCM). Learn about symptom management, VP shunts, and targeted therapies like MEK inhibitors.

07

Building Your Care Team and Ongoing Monitoring

Learn how to build a multidisciplinary care team for neurocutaneous melanocytosis (NCM). Understand the importance of MRI archives and total-body photography.

You do not need to read everything at once. Take this one step at a time. Empower yourself with knowledge so that you can ask the right questions and ensure the best possible care for you or your child.

Common questions in this guide

What causes neurocutaneous melanocytosis (NCM)?
NCM is caused by a random genetic change called a postzygotic NRAS mutation that occurs during early embryonic development. It is not inherited, it was not caused by anything you did, and it cannot be passed to future siblings.
How is NCM diagnosed and monitored?
Doctors use clinical criteria based on the size and number of congenital melanocytic nevi on the skin, known as Projected Adult Size. Screening MRIs of the brain and spinal cord are then used to detect if pigment-producing cells are present in the central nervous system.
What are the potential complications of NCM?
Individuals with NCM may develop neurological symptoms or complications such as hydrocephalus, which is fluid buildup in the brain. There is also a rare risk of developing central nervous system melanoma.
What treatments are available for neurocutaneous melanocytosis?
Standard care focuses on managing specific symptoms and organizing a multidisciplinary medical team. Emerging targeted therapies, such as MEK inhibitors, are also being explored for treating the underlying cellular pathways involved in NCM.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who will serve as the primary 'quarterback' of my multidisciplinary care team?
  2. 2.How often should we have routine check-ins, even if there are no new symptoms?
  3. 3.Can you provide a letter explaining my condition that I can give to the local emergency room in case of an acute event?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (6)
  1. 1

    Neurocutaneous melanocytosis (melanosis).

    Ruggieri M, Polizzi A, Catanzaro S, et al.

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(10)):2571-2596 doi:10.1007/s00381-020-04770-9.

    PMID: 33048248
  2. 2

    Skin-related quality of life in children and adolescents with congenital melanocytic naevi - an analysis of self- and parent reports.

    Neuhaus K, Landolt MA, Theiler M, et al.

    Journal of the European Academy of Dermatology and Venereology : JEADV 2020; (34(5)):1105-1111 doi:10.1111/jdv.16131.

    PMID: 31803958
  3. 3

    Amplification of mutated NRAS leading to congenital melanoma in neurocutaneous melanocytosis.

    Salgado CM, Basu D, Nikiforova M, et al.

    Melanoma research 2015; (25(5)):453-60 doi:10.1097/CMR.0000000000000188.

    PMID: 26266759
  4. 4

    The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children.

    Wertheim-Tysarowska K, Szczygielski O, Seliga K, et al.

    Journal of mother and child 2021; (25(1)):19-24 doi:10.34763/jmotherandchild.20212501.d-21-00007.

    PMID: 34643354
  5. 5

    Congenital Melanocytic Nevus Syndrome: A Case Series.

    Recio A, Sánchez-Moya AI, Félix V, Campos Y

    Actas dermo-sifiliograficas 2017; (108(9)):e57-e62 doi:10.1016/j.ad.2016.07.025.

    PMID: 28110826
  6. 6

    Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

    Ekvall S, Wilbe M, Dahlgren J, et al.

    BMC medical genetics 2015; (16()):95 doi:10.1186/s12881-015-0239-1.

    PMID: 26467218

This guide to neurocutaneous melanocytosis is for informational purposes only and does not replace professional medical advice. Always consult your multidisciplinary care team regarding diagnosis, MRI screening, and treatment options.

Get notified when new evidence is published on Neurocutaneous melanocytosis.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.