Melanosis, Neurocutaneous (NCMS)

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OMIM 58 249400 MeSH 45 D008548 D020752 MESH via Orphanet 46 C537387 ICD10 via Orphanet 35 D22.3 D22.4 D22.5 D22.6 D22.7 more UMLS via Orphanet 75 C0544862

Orphanet 60 ORPHA2481 MedGen 43 C0544862 SNOMED-CT via HPO 70 111293003 111496009 127377003 128613002 1386000 14447001 171131006 17417006 18021007 20022000 2092003 224958001 228156007 230745008 246545002 247578003 253184003 25786006 274521009 277843001 313307000 33595009 372244006 39302008 421689001 45170000 69943009 73013002 84757009 91138005 91175000 more UMLS 74 C0025209 C0221391 C0544862

NIH Rare Diseases : ⁵⁴ 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. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. 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.Management depends on the symptoms present, and may include close observation, shunting to reduce intracranial pressure. The prognosis of patients with symptomatic neurocutaneous melanosis is generally poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.

MalaCards based summary : Melanosis, Neurocutaneous, also known as neurocutaneous melanosis, is related to carbon baby syndrome and becker nevus syndrome. An important gene associated with Melanosis, Neurocutaneous is NRAS (NRAS Proto-Oncogene, GTPase). Affiliated tissues include skin, brain and cerebellum, and related phenotypes are intellectual disability and seizures

OMIM : ⁵⁸ 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). (249400)

UniProtKB/Swiss-Prot : ⁷⁶ Melanosis, neurocutaneous: A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma.

Wikipedia : ⁷⁷ Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital... more...

Clinical features from OMIM:

249400

Search Clinical Trials , NIH Clinical Center for Melanosis, Neurocutaneous

Search GEO for disease gene expression data for Melanosis, Neurocutaneous.