Neurocutaneous Melanosis, Somatic malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases
Aliases & Descriptions for Neurocutaneous Melanosis, Somatic:
Orphanet epidemiological data:52
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Skin diseases
NIH Rare Diseases:46 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. most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes.the prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. chemotherapy has been ineffective in the few patients in whom it has been tried. last updated: 4/18/2011
MalaCards based summary: Neurocutaneous Melanosis, Somatic, also known as melanosis, neurocutaneous, is related to carbon baby syndrome and familial progressive hyperpigmentation, and has symptoms including melanocytic nevus, hypertrichosis and thickened skin. An important gene associated with Neurocutaneous Melanosis, Somatic is NRAS (Neuroblastoma RAS Viral Oncogene Homolog). Affiliated tissues include skin, brain and spinal cord.
OMIM:50 Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the... (249400) more...
UniProtKB/Swiss-Prot:68 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:69 Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital... more...
Symptoms by clinical synopsis from OMIM:249400
Clinical features from OMIM:249400
Symptoms:52 (show all 27)
HPO human phenotypes related to Neurocutaneous Melanosis, Somatic:(show all 35)
Drugs for Neurocutaneous Melanosis, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 56)
Interventional clinical trials:(show top 50) (show all 75)
Search NIH Clinical Center for Neurocutaneous Melanosis, Somatic
Genetic tests related to Neurocutaneous Melanosis, Somatic:
MalaCards organs/tissues related to Neurocutaneous Melanosis, Somatic:34
Skin, Brain, Spinal cord, Cerebellum, Pons, Amygdala, Pancreas
UniProtKB/Swiss-Prot genetic disease variations for Neurocutaneous Melanosis, Somatic:68
Clinvar genetic disease variations for Neurocutaneous Melanosis, Somatic:5
Search GEO for disease gene expression data for Neurocutaneous Melanosis, Somatic.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet