Mosaic NRASopathy n a child with giant melanocytic congenital naevus, epidermal hamartoma and bilateral nephroblastomatosis: clinical implication for follow-up

Abstract

Various nevoid proliferations result from postzygotic mutation in genes within the RAF/RAS/MAPK pathway, supporting the term "mosaic RASopathy"(1). Giant congenital melanocytic naevus (GCMN) and neurocutaneous melanosis are rare mosaic RASopathies mainly known to be at risk for the development of melanoma and skeletal anomalies are variably recorded (2,3).

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