A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines

Abstract

Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant condition arising from gene variants involved in the RAS-MAPK pathway. The presence of multiple skin cancers is not widely reported in NSML. We report on a novel missense variant causing NSML in a patient with an unusual distribution of lentigines and multiple skin cancers. An increased awareness of the potential for malignant change of lentigines in NSML may encourage regular skin surveillance as a mainstay of multidisciplinary management, enabling early diagnosis and management of skin cancers in this group of patients.