Agminated blue nevus with a GNAQ mutation: A case report and review of the literature. (19th November 2018)

• Record Type: Journal Article
• Authors: Eichenfield, Dawn Z.; Cotter, David; Thorson, John; Hinds, Brian; Sun, Bryan K.
• Is Part Of: Journal of cutaneous pathology. Volume 46:Number 2(2019)
• Page Start: 130
• Page End: 133
• Publication Date: 2018-11-19
• Subjects: Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.13373
• Languages: English
• ISSNs: 0303-6987

Abstract

Abstract : Agminated blue nevi are dermal melanocytic proliferations that classically present as dark blue macules or papules in a grouped, linear, or blaschkoid distribution. In their more common sporadic form, blue nevi manifest in young adulthood as solitary blue papules or macules on the scalp, face, hands, or feet. By contrast, agminated blue nevi tend to manifest earlier in life, and are distributed more evenly across anatomic sites. Recent studies have identified mutations in sporadic blue nevi in the genes encoding G Protein subunit alpha Q and G protein subunit alpha 11 (GNAQ and GNA11). It is unknown whether agminated blue nevi share the same genetic changes. In the present paper, we present a case of agminated blue nevus on the wrist, and identify an activating mutation (c.626A > T, p.Glu209Leu) in GNAQ . We hypothesize that GNAQ/GNA11 activating mutations arising earlier during development may trigger agminated blue nevi, explaining the broader field of involvement in these cutaneous lesions.