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GTR Home > Conditions/Phenotypes > Neurocutaneous melanocytosis

Neurocutaneous melanocytosis

Synonyms
NEUROCUTANEOUS MELANOSIS, SOMATIC; NEUROMELANOSIS; Neurocutaneous melanosis; Neurocutaneous melanosis syndrome
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS1, NS6, NRAS
    Summary: NRAS proto-oncogene, GTPase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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