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Disease Profile
Neurocutaneous melanosis
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
Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Melanosis, neurocutaneous; Neurocutaneous melanosis syndrome
Categories
Nervous System Diseases; Rare Cancers; Skin Diseases
Summary
Neurocutaneous melanosis (NCM) is a rare, non
Management depends on the symptoms present, and may include close observation, shunting to reduce intracranial pressure.[3] The
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 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Numerous |
0005603 | |
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 |
0002353 | ||
Encephalitis |
Brain inflammation
|
0002383 |
Global |
0001263 | |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
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 |
0001428 | ||
Sporadic |
No previous family history
|
0003745 |
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
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
- 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.
- 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; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481.