Congenital melanocytic nevus syndrome (CMNS) is a rare condition characterized by pigmented skin lesions that are usually present at birth and are associated with an increased risk of neurological abnormalities and malignant melanoma. Mostly CMNS is related to postzygotic mutations in the NRAS gene, resulting in abnormal signaling in the MAPK pathway. It has also been reported that mutations in HRAS cause nevus spilus, a congenital hyper-pigmented patch. It progressively evolves, developing lentigines, melanocytic nevi, Spitz nevi, and melanoma.
Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE
タイトル
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
