Neurocutaneous melanosis

Title

Other Names:

Melanosis, neurocutaneous; Neurocutaneous melanosis syndrome

Categories:

Nervous System Diseases; Rare Cancers; Skin Diseases

Summary Summary

Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain.^[1]^[2] Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions.^[1] The typical cutaneous lesions are present at birth. Neurological features typically present in the first or second year. Intracranial hypertension is the most common presentation, along with seizures, decreased alertness, and cranial nerve dysfunction.The underlying cause, while not completely understood, is believed to be a primary defect in the neural crest.^[2]

Management depends on the symptoms present, and may include close observation, shunting to reduce intracranial pressure.^[3] The prognosis of patients with symptomatic neurocutaneous melanosis is generally poor, even in the absence of malignancy.^[1]^[3] Chemotherapy has been ineffective in the few patients in whom it has been tried.^[1]

Last updated: 11/6/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Generalized hirsutism	Excessive hairiness over body	0002230
Generalized hyperpigmentation		0007440
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Numerous congenital melanocytic nevi		0005603
Seizures	Seizure	0001250
Thickened skin	Thick skin	0001072
5%-29% of people have these symptoms
Abnormality of neuronal migration		0002269
Abnormality of retinal pigmentation		0007703
Aplasia/Hypoplasia of the cerebellum	Absent/small cerebellum Absent/underdeveloped cerebellum [ more ]	0007360
Arachnoid cyst	Fluid-filled sac located in membrane surrounding brain or spinal cord	0100702
Arnold-Chiari malformation		0002308
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Chorioretinal coloboma	Birth defect that causes a hole in the innermost layer at the back of the eye	0000567
Choroid plexus papilloma		0200022
Cranial nerve paralysis		0006824
Dandy-Walker malformation		0001305
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
EEG abnormality		0002353
Encephalitis	Brain inflammation	0002383
Global developmental delay		0001263
Hemiparesis	Weakness of one side of body	0001269
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Intracranial hemorrhage	Bleeding within the skull	0002170
Melanoma		0002861
Meningioma		0002858
Meningocele		0002435
Renal hypoplasia/aplasia	Absent/small kidney Absent/underdeveloped kidney [ more ]	0008678
Syringomyelia	Fluid-filled cyst in spinal cord	0003396
Venous thrombosis	Blood clot in vein	0004936
Percent of people who have these symptoms is not available through HPO
Mental deterioration	Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ]	0001268
Somatic mutation		0001428
Sporadic	No previous family history	0003745

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Last updated: 7/1/2019

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes primary central nervous system melanoma, meningeal melanocytoma (see these terms), idiopathic hydrocephalus, idiopathic epilepsy, and meningeal melanoma. Visit the Orphanet disease page for more information.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Neurocutaneous melanosis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Di Rocco F, Sabatino G et al. Neurocutaneous melanosis. Childs Nerv Syst. 2004 Jan; 20(1):23-8. http://www.ncbi.nlm.nih.gov/pubmed/14576958.
Di Rocco F, Sabatino G, Koutzoglou M, Battaglia D, Caldarelli M, Tamburrini G.. Neurocutaneous melanocytosis.. Handb Clin Neurol. 2013; 111:369-88. https://www.ncbi.nlm.nih.gov/pubmed/23622187.
Etchevers H. Neurocutaneous melanocytosis. Orphanet. February 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481.

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