Melanosis, Neurocutaneous

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OMIM 57 249400 Orphanet 59 ORPHA2481 ICD10 via Orphanet 34 D22.4 D22.5 D22.6 D22.3 D22.7 more MESH via Orphanet 45 C537387 UMLS via Orphanet 74 C0544862

MedGen 42 C0544862 MeSH 44 D008548 D020752 SNOMED-CT via HPO 69 230745008 39302008 25786006 277843001 17417006 69943009 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 127377003 20022000 14447001 1386000 253184003 274521009 45170000 171131006 2092003 372244006 111496009 111293003 73013002 421689001 33595009 18021007 more UMLS 73 C0544862 C0025209 C0221391

NIH Rare Diseases : ⁵³ 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 : ⁵⁷ 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 : ⁷⁵ 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 : ⁷⁶ 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.