REVIEW   

Italian Journal of Dermatology and Venereology 2024 Feb 20

DOI: 10.23736/S2784-8671.24.07839-3

Copyright © 2024 EDIZIONI MINERVA MEDICA

language: English

Melanocortin-1 receptor (MC1R): a review for dermatologists

Stefania GUIDA ^{1, 2} ✉, Susana PUIG ³, Chiara DI RESTA ^{2, 4}, Fabio SALLUSTIO ⁵, Eleonora MANGANO ⁶, Giorgio STABILE ^{1, 2}, Caterina LONGO ^{7, 8}, Giovanni PELLACANI ⁹, Gabriella GUIDA ¹⁰, Franco RONGIOLETTI ^{1, 2}

¹ Dermatology Clinic, IRCCS San Raffaele Hospital, Milan, Italy; ² Faculty of Medicine, Vita-Salute San Raffaele University, Milan, Italy; ³ Melanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, Instituto de Investigaciones Biomédicas August Pi i Sunye, University of Barcelona, Barcelona, Spain; ⁴ Genomic Unit for the Diagnosis of Human Pathologies, IRCCS San Raffaele Hospital, Milan, Italy; ⁵ Department of Interdisciplinary Medicine, Aldo Moro University of Bari, Bari, Italy; ⁶ Institute of Biomedical Technologies (ITB), National Research Center (CNR), Segrate, Milan, Italy; ⁷ Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy; ⁸ Skin Cancer Center, Azienda Unità Sanitaria Locale, IRCCS di Reggio Emilia, Reggio Emilia, Italy; ⁹ Department of Dermatology, Sapienza University, Rome, Italy; ¹⁰ Section of Molecular Biology, Department of Basic Medical Sciences, Neurosciences and Sense Organs, Aldo Moro University of Bari, Bari, Italy

Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin. Specifically, after summarizing the current knowledge about MC1R structure and polymorphisms, we report data concerning the correlation between MC1R, phenotypic traits, skin aging, other diseases and skin cancers and their risk assessment through genetic testing.

KEY WORDS: Human MC1R protein; Melanoma; Skin aging; Skin neoplasms