Rare Dermatology News

Disease Profile

Neurocutaneous melanosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

D22.3 D22.4 D22.5 D22.6 D22.7

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Melanosis, neurocutaneous; Neurocutaneous melanosis syndrome

Categories

Nervous System Diseases; Rare Cancers; Skin Diseases

Summary

Neurocutaneous melanosis (NCM) is a rare, noninherited 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]

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.

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
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

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.

References

  1. Di Rocco F, Sabatino G et al. Neurocutaneous melanosis. Childs Nerv Syst. 2004 Jan; 20(1):23-8. https://www.ncbi.nlm.nih.gov/pubmed/14576958.
  2. 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.
  3. Etchevers H. Neurocutaneous melanocytosis. Orphanet. February 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481.