Detection of a multi-lineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Mosaic RASopathies constitute a clinically and genetically heterogeneous group of non-inherited congenital (neuro)cutaneous disorders caused by postzygotic mutations in genes encoding components of the RAS-MAPK signaling pathway (Luo & Tsao, 2014). There are striking genotype-phenotype correlations within this group but also clinical features overlapping between distinct disorders. Congenital melanocytic nevi (CMN) are the most common lesions falling into the category of mosaic RASopathies. This article is protected by copyright. All rights reserved.