title: Dermoscopy, reflectance confocal microscopy and histopathology of an amelanotic melanoma from an individual heterozygous for MC1R and tyrosinase variant alleles.
abstract: We present a case of an amelanotic nodular melanoma occurring in a 26-year-old woman who carried a heterozygous (melancortin-1-receptor) MC1R 160R/W and tyrosinase (TYR) 402R/Q genotype and had a dark hair phenotype. We present dermoscopic, reflectance confocal microscopy (RCM) and histopathological images of the melanoma. We discuss the relationship between MC1R red hair colour (RHC) variants, TYR variants, phenotype and melanoma development. We also discuss the merits of RCM as an additional diagnostic aid for equivocal melanocytic lesions.
authors.affiliation: School of Medicine Dermatology Research Centre, University of Queensland Institute for Molecular Bioscience, Brisbane, Queensland, Australia. c.curchin@uq.edu.au
authors.forename: Claudia
authors.initials: C
authors.lastname: Curchin
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Wurm
authors.forename: Kasturee
authors.initials: K
authors.lastname: Jagirdar
authors.forename: Richard
authors.initials: R
authors.lastname: Sturm
authors.forename: Peter
authors.initials: P
authors.lastname: Soyer
mesh_terms: D000328:Adult; D046169:Dermoscopy; D005260:Female; D006579:Heterozygote; D006801:Humans; D018328:Melanoma, Amelanotic / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D018613:Microscopy, Confocal; D014442:Monophenol Monooxygenase / Q000235:genetics; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery
chemical_list: D044102:Receptor, Melanocortin, Type 1; D014442:Monophenol Monooxygenase