Hypertrophic Neuropathy in Noonan Syndrome with Multiple Lentigines

被引：11
|
作者：
Maridet, Claire [1 ]
Sole, Guilhem [2 ]
Morice-Picard, Fanny [1 ]
Taieb, Alain [1 ]
机构：
[1] CHU Bordeaux, Hop St Andre, Dept Dermatol & Pediat Dermatol, Natl Reference Ctr Rare Disorders, 1 Rue Jean Burguet, F-33000 Bordeaux, France
[2] CHU Bordeaux, Hop Pellegrin, Dept Neurol, Bordeaux, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 06期
关键词：
hypertrophic neuropathy; Noonan syndrome with multiple lentigines; lentigines;
D O I：
10.1002/ajmg.a.37601
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. (C) 2016 Wiley Periodicals, Inc.
引用
收藏
页码：1570 / 1572
页数：3
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