Rare Medical News
Disease Profile
Melanoma
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of onset
Adult
ICD-10
C43.9
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hereditary Cutaneous Melanoma, Familial Cutaneous Melanoma, Hereditary Cutaneous (Skin) Melanoma, Familial Melanoma
Categories
Summary
Symptoms
Nevus: Mole
Abnormal hair morphology: Abnormality of the hair
Abnormality of the lymphatic system
Dry skin
Freckling
Abnormality of extrapyramidal motor function
Neoplasm of the breast: Breast tumor
Retinopathy: Noninflammatory retina disease
Cause
Diagnosis
Treatment
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
Encorafenib + binimetinib
(Brand name: Braftovi + Mektovi) - Manufactured by Array BioPharma, Inc.
FDA-approved indication: June 2018, approved in combination for the treatment of patients with unresectable or metastatic melanoma with a BRAF V600E or V600K mutation, as detected by an FDA-approved test.
Pembrolizumab
(Brand name: Keytruda) - Manufactured by Merck, Sharp & Dohme Corp
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma and disease progression following ipilimumab and, if BRAF V600 mutation positive, a BRAF inhibitor.
Trametinib
(Brand name: Mekinist) - Manufactured by GlaxoSmithKline, LLC
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma with BRAF V600E or V600K mutations as detected by an FDA approved test.
Nivolumab
(Brand name: Opdivo) - Manufactured by Bristol-Myers Squibb Co
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma and disease progression following ipilimumab and, if BRAF V600 mutation positive, a BRAF inhibitor. And treatment of patients with melanoma with involvement of lymph nodes or metestatic disease who have undergone complete resection.