title: Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
abstract: RASopathies comprise several genetic syndromes with mainly cardio-facial-cutaneous manifestations. We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. Differential diagnosis of neurofibromatosis type 1 (NF1) and other RASopathies is difficult without molecular testing. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital Saint-André, CHU Bordeaux, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Maridet
authors.affiliation: Department of Neurology, Hôpital Pellegrin, CHU Bordeaux, France.
authors.forename: Guilhem
authors.initials: G
authors.lastname: Sole
authors.affiliation: Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital Saint-André, CHU Bordeaux, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.affiliation: Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital Saint-André, CHU Bordeaux, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Taieb
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D003062:Codon; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007911:Lentigo / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: D003062:Codon; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Noonan syndrome with multiple lentigines; hypertrophic neuropathy; lentigines