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.[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Cognitive impairment | 90% |
| Generalized hyperpigmentation | 90% |
| Hypertrichosis | 90% |
| Melanocytic nevus | 90% |
| Seizures | 90% |
| Thickened skin | 90% |
| Abnormality of neuronal migration | 7.5% |
| Abnormality of retinal pigmentation | 7.5% |
| Aplasia/Hypoplasia of the cerebellum | 7.5% |
| Arnold-Chiari malformation | 7.5% |
| Behavioral abnormality | 7.5% |
| Chorioretinal coloboma | 7.5% |
| Cranial nerve paralysis | 7.5% |
| Dandy-Walker malformation | 7.5% |
| EEG abnormality | 7.5% |
| Encephalitis | 7.5% |
| Hemiplegia/hemiparesis | 7.5% |
| Intracranial hemorrhage | 7.5% |
| Melanoma | 7.5% |
| Meningocele | 7.5% |
| Renal hypoplasia/aplasia | 7.5% |
| Syringomyelia | 7.5% |
| Thrombophlebitis | 7.5% |
| Arachnoid cyst | 5% |
| Choroid plexus papilloma | 5% |
| Hydrocephalus | 5% |
| Meningioma | 5% |
| Death in infancy | - |
| Mental deterioration | - |
| Numerous congenital melanocytic nevi | - |
| Sporadic | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
2013 International Expert Meeting on Congenital Melanocytic Nevi (CMN) and Neurocutaneous Melanocytosis (NCM)
Saturday, September 28, 2013 -
Monday, September 30, 2013
Location:
Marseille,
France
Description: The goals of the meeting are to foster and enable the coordination of novel, interdisciplinary and international collaborations among participants. The leadership of major U.S. and European LCMN advocacy groups will attend the conference, to further refine the international initiatives established in 2011. These outcomes will continue making important contributions to the improvement of diagnosis and treatment for patients with this disfiguring and potentially life-threatening disease.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
2011 International Expert Meeting for Large Congenital Melanocytic Nevi (LCMN) and Neurocutaneous Melanocytosis (NCM)
Friday, May 6, 2011 -
Saturday, May 7, 2011
Location: University of Tübingen,
Germany
Description: The goals of this conference are to: (1) improve/broaden the knowledge and understanding of causes and cures of LCMN/NCM among those in attendance; (2) disseminate knowledge collected at the meeting to concerned people via a robust Internet presentation and conventional print forums; (3) accelerate the search for causes and cures of LCMN/NCM through improved interdisciplinary networking, recruitment for research projects currently under way, and brainstorming on future research subjects; and (4) improve treatment outcomes.
Contact: Theresa Smith, NIAMS(301) 435-5595smiththe@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
