title: Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.
abstract: Individuals with two red hair colour (RHC)-MC1R genetic variants have light skin and blond/reddish hair and, in comparison with those without such alleles, are at an increased risk of developing melanoma. Our study investigated the association of RHC variants and the Total Dermo-scopy Score (TDS), and the items that make up the TDS, in those with atypical naevi and melanomas from high risk melanoma patients. Eight hundred and seventy-six atypical naevi and 21 melanomas were scored according to the TDS system and MC1R polymorphisms were determined. Analyses revealed that several TDS items including pigment network, dark-brown colour and streaks were more frequently observed in atypical naevi from individuals without RHC variants, while structureless areas were more often observed in individuals with two RHC variants. Finally, no significant difference in TDS was detected in atypical naevi from individuals with two RHC variants compared to those without RHC. Clinicians should be aware of a different dermoscopic naevus pheno-type in patients with light blond or RHC MC1R variants.
authors.affiliation: Department of Dermatology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
authors.forename: Koen D
authors.initials: KD
authors.lastname: Quint
authors.forename: Jasper I
authors.initials: JI
authors.lastname: van der Rhee
authors.forename: Nelleke A
authors.initials: NA
authors.lastname: Gruis
authors.forename: Jeanet A
authors.initials: JA
authors.lastname: Ter Huurne
authors.forename: Ron
authors.initials: R
authors.lastname: Wolterbeek
authors.forename: Nienke
authors.initials: N
authors.lastname: van der Stoep
authors.forename: Wilma
authors.initials: W
authors.lastname: Bergman
authors.forename: Nicole A
authors.initials: NA
authors.lastname: Kukutsch
mesh_terms: D016009:Chi-Square Distribution; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D046169:Dermoscopy; D020022:Genetic Predisposition to Disease; D006200:Hair Color / Q000235:genetics; D006801:Humans; D016014:Linear Models; D016015:Logistic Models; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009508:Nevus, Pigmented / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012307:Risk Factors; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D012880:Skin Pigmentation / Q000235:genetics
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D044102:Receptor, Melanocortin, Type 1