title: Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway.
abstract: Neurofibromatosis-Noonan syndrome is an entity that combines both features of Noonan syndrome and Neurofibromatosis type 1. This phenotypic overlap can be explained by the involvement of the RAS-MAPK pathway (mitogen-activated protein kinase) in both disorders. We report the case of a 17-year-old boy with Neurofibromatosis 1 with Noonan-like features, who complained of the progressive appearance of blue-gray lesions on his back.
authors.affiliation: Department of Dermatology, Hospital Clinico, Universitario Valencia, Hospital Universitario Ramon y Cajal, Madrid, Spain.
authors.forename: Irela
authors.initials: I
authors.lastname: Reig
authors.forename: Pablo
authors.initials: P
authors.lastname: Boixeda
authors.forename: Beatriz
authors.initials: B
authors.lastname: Fleta
authors.forename: Carmen
authors.initials: C
authors.lastname: Morenoc
authors.forename: Lucía
authors.initials: L
authors.lastname: Gámez
authors.forename: Mayte
authors.initials: M
authors.lastname: Truchuelo
mesh_terms: D000293:Adolescent; D001415:Back; D006801:Humans; D008297:Male; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D017253:Neurofibromatoses / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009634:Noonan Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D018631:ras Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D020928:Mitogen-Activated Protein Kinases; D018631:ras Proteins