Rare Dermatology News

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Melanoma is a malignancy of pigment-producing cells (melanocytes) located predominantly in the skin, but also found in the eyes, ears, GI tract, leptomeninges, and oral and genital mucous membranes.


<1 / 100 000

< 100

US Estimated

< 100

Europe Estimated

Age of Onset





Autosomal dominant


Autosomal recessive




X-linked dominant


X-linked recessive


5 Facts you should know



New cases of melanoma are increasing annually at almost 6%.
It is estimated that the number of new melanoma cases diagnosed in 2021 will increase by 5.8 percent.



Melanoma can be colorless.
While it’s true that many melanomas are dark brown to black in color, some melanomas have no color and appear as pink spots or bumps.



The majority of melanoma-related deaths occur in patients initially diagnosed with early-stage disease.
There are an estimated 130,000 patients diagnosed with invasive, non-metastatic cutaneous melanoma annually in the US. Most of these patients (estimated to be more than 100,000) are diagnosed with early-stage (Stage I-II) disease. Despite recent advances in treatment, the majority of melanoma-related deaths occur in patients initially thought to be low risk.



The false-negative rate of the SLNB procedure is reported to be between 5-21%.
While SLNB provides prognostic information the procedure has significant limitations including no survival benefit, low sensitivity, and a surgical complication rate of 11%.



Genomic testing more accurately identifies high-risk melanoma tumors.
When compared with traditional staging, genomic testing can provide a more accurate and personalized assessment of the risk of tumors metastasizing or recurring.

Melanoma is also know as...


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

What’s your Rare IQ?

Approximately what % of melanoma patients undergoing an SLNB surgical procedure will receive a
negative result?

Common signs & symptoms



Abnormal hair morphology

Abnormality of the hair

Abnormality of the lymphatic system

Dry skin


Abnormality of extrapyramidal motor function

Neoplasm of the breast

Breast tumor


Noninflammatory retina disease

Current 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.


(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.


(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.


(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.

Top clinical trials

TitleDescriptionPhaseStatusInterventionsLocation(s)More Information
Nivolumab/Ipilimumab Plus Cabozantinib in Patients With Unresectable Advanced MelanomaIn this phase II advanced melanoma study, all patients will receive treatment with nivolumab/ipilimumab plus cabozantinib for a 12 week induction period followed by nivolumab plus cabozantinib maintanence to complete up to 2 years of therapy unless disease progression, dose limiting toxicity, provider/patient decision or patient withdrawal of consent occurs. IIRecruiting Nivolumab, Ipilimumab, Cabozantinib John Theurer Cancer Center at Hackensack University Medical Center, Medstar Franklin Square Medical Center, Harry and Jeanette Weinberg Cancer Institute, Lombardi Comprehensive Cancer CenterVisit ClinicalTrials.gov for more info
Neoantigen Vaccine Plus Locally Administered Ipilimumab and Systemic Nivolumab in Advanced MelanomaThis research study is studying a new type of personalized neoantigen vaccine (NeoVax) plus Montanide® in combination with Ipilimumab (Yervoy™) and Nivolumab (Opdivo®) as a possible treatment for melanoma.IRecruitingNivolumab, NeoVax plus Montanide, Ipilimumab Dana Farber Cancer InstituteVisit ClinicalTrials.gov for more info
INCB039110 in Combination With Dabrafenib and Trametinib in Patients With BRAF-mutant Melanoma and Other Solid Tumors.This research study is studying a combination of drugs as a possible treatment for BRAF-mutant melanoma.IRecruitingTrametinib, Dabrafenib, INCB039110Massachusetts General HospitalVisit ClinicalTrials.gov for more info
Study of HL-085 in NRAS Mutant Advanced MelanomaThis is a phase I/II, open-label, dose escalation study to evaluate tolerability, safety, pharmacokinetics and efficacy in patients with NRAS mutant advanced melanoma .I/IIRecruitingHL-085 Fudan University Shanghai Cancer Center, Beijing Cancer HospitalVisit ClinicalTrials.gov for more info

Top treatments in research

AgentClass/Mechanism of ActionDevelopment StatusCompanyCompany ContactClinical StudiesMore Information
BNT111We are currently studying BNT111 in an ongoing Phase 1 clinical trial. Find out more about the Lipo-MERIT study here.

An earlier version of the BNT111 only targeting NY-ESO-1 and tyrosinase has already completed a first-in-human dose escalation study (MERIT study) evaluating the safety and tolerability of intranodal administration in patients with advanced melanoma.
IBioNTech US Inc.patients@biontech.de Learn about this treatment at ClinicalTrials.gov LXH254LXH254 (Compound A) is an adenosine triphosphate (ATP)-competitive inhibitor of BRAF (also referred to herein as b-RAF or b-Raf) and CRAF (also referred to herein as c-RAF or c- Raf) protein kinases. Throughout the present disclosure, LXH254 is also referred to as a c-RAF (or CRAF) inhibitor or a C-RAF/c-Raf kinase inhibitor. In cell-based assays, LXH254 has demonstrated anti-proliferative activity in cell lines that contain a variety of mutations that activate MAPK signaling. Moreover, LXH254 is a Type 2 ATP -competitive inhibitor of both B-Raf and C-Raf that keeps the kinase pocket in an inactive conformation, thereby reducing the paradoxical activation seen with many B-Raf inhibitors, and blocking mutant RAS-driven signaling and cell proliferation.IINovartis Pharmaceuticalsnovartis.email@novartis.com Learn about this treatment at ClinicalTrials.govMore information
MGD013MGD013 is an investigational, bispecific DART® molecule designed to independently or coordinately block PD-1 and LAG-3 checkpoint molecules to sustain or restore the function of exhausted T cells for the treatment of cancer.IZai LabSophie Sun 13581609912 Sophie.sun@zailaboratory.com Learn about this treatment at ClinicalTrials.govMore information