Premium
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Author(s) -
Maridet Claire,
Sole Guilhem,
MoricePicard Fanny,
Taieb Alain
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37601
Subject(s) - noonan syndrome , medicine , ptpn11 , differential diagnosis , short stature , dermatology , neurofibromatosis , neurofibromatosis type i , osteochondrodysplasia , peripheral neuropathy , pathology , endocrinology , cancer , colorectal cancer , kras , diabetes mellitus
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.