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)|
|Hypopigmented skin patches||7.5%|
|Autosomal dominant inheritance||-|
|Broad nasal tip||-|
|Congenital giant melanocytic nevus||-|
|Everted lower lip vermilion||-|
|Narrow nasal ridge||-|
|Prominence of the premaxilla||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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I want to know if there are any treatments for giant congenital melanocytic nevus - if so, what are they? And what percent of giant congenital melanocytic nevi develop into cancer? See answer