Hereditary melanoma

Title

Other Names:

Hereditary Cutaneous Melanoma; Familial Cutaneous Melanoma; Hereditary Cutaneous (Skin) Melanoma; Hereditary Cutaneous Melanoma; Familial Cutaneous Melanoma; Hereditary Cutaneous (Skin) Melanoma; Familial Melanoma See More

Categories:

Rare Cancers

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Melanoma		0002861
Nevus	Mole	0003764
30%-79% of people have these symptoms
Abnormal hair morphology	Abnormality of the hair Hair abnormality [ more ]	0001595
Abnormality of the lymphatic system		0100763
Dry skin		0000958
Freckling		0001480
5%-29% of people have these symptoms
Abnormality of extrapyramidal motor function		0002071
Neoplasm of the breast	Breast tumor Tumours of the breast [ more ]	0100013
Neoplasm of the pancreas	Cancer of the pancreas Pancreatic tumor [ more ]	0002894
Neoplasm of the stomach	Stomach tumor	0006753
Retinopathy	Noninflammatory retina disease	0000488

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 6/1/2020

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

FDA-Approved Treatments

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.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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.
National Library of Medicine Drug Information Portal
Trametinib and dabrafenib combination (Brand name: Mekinist And Tafinlar) - Manufactured by Novartis Pharmaceuticals Corporation
FDA-approved indication: April 2018 approved combination for the adjuvant treatment of patients with melanoma with BRAF V600E or V600K mutations, as detected by an FDA-approved test, and involvement of lymph node(s), following complete resection.
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.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Aldesleukin (Brand name: Proleukin) - Manufactured by Chiron Corporation
FDA-approved indication: Treatment of adults with metastatic melanoma.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Peginterferon Alfa-2b (Brand name: Sylatron) - Manufactured by Schering/Merck
FDA-approved indication: Adjuvant treatment of melanoma with microscopic or gross nodal involvement within 84 days of definitive surgical resection including complete lymphadenectomy
National Library of Medicine Drug Information Portal
Dabrafenib (Brand name: Tafinlar) - Manufactured by GlaxoSmithKline, LLC
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma with BRAF V600E mutation as detected by an FDA approved test.
National Library of Medicine Drug Information Portal
Technetium Tc99m sulfur colloid injection, lyophilized (Brand name: Technetium Tc99m Sulfur Colloi) - Manufactured by Pharmalucence, Inc.
FDA-approved indication: Localization of lymph nodes draining a primary tumor in patients with melanoma when used with a hand-held gamma counter
National Library of Medicine Drug Information Portal
Ipilimumab (Brand name: Yervoy) - Manufactured by Bristol-Myers Squibb Pharmaceutical
FDA-approved indication: Treatment of unresectable or metastatic melanoma for patients 12 years old and up.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Melanoma Research Alliance (MRA)
730 15th Street, NW
Washington, DC 20005
Telephone: +1-202-336-8935
E-mail: info@curemelanoma.org
Website: https://www.curemelanoma.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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.

Financial Resources

Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.
Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.
The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

Learn More Learn More

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.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

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