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: Claudia Curchin, Elisabeth Wurm, Kasturee Jagirdar, Richard Sturm, Peter Soyer
• Journal: The Australasian journal of dermatology (Australas J Dermatol) Vol. 53 Issue 4 Pg. 291-4 (Nov 2012) ISSN: 1440-0960 [Electronic] Australia
• PMID: 22497519 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2012 The Authors. Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.

Chemical References

• Receptor, Melanocortin, Type 1
• Monophenol Monooxygenase

Topics

• Adult
• Dermoscopy
• Female
• Heterozygote
• Humans
• Melanoma, Amelanotic (genetics, pathology, surgery)
• Microscopy, Confocal
• Monophenol Monooxygenase (genetics)
• Receptor, Melanocortin, Type 1 (genetics)
• Skin Neoplasms (genetics, pathology, surgery)