神经纤维瘤病-努南综合征：神经纤维瘤病-努南综合征及RAS-MAPK通路的病例报告与临床病理分析

Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway.

作者信息

Reig Irela, Boixeda Pablo, Fleta Beatriz, Morenoc Carmen, Gámez Lucía, Truchuelo Mayte

机构信息

Department of Dermatology, Hospital Clinico, Universitario Valencia, Hospital Universitario Ramon y Cajal, Madrid, Spain.

出版信息

Dermatol Online J. 2011 Apr 15;17(4):4.

PMID:21549079

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.

摘要

神经纤维瘤病-努南综合征是一种兼具努南综合征和1型神经纤维瘤病特征的病症。这种表型重叠可通过RAS-丝裂原活化蛋白激酶（MAPK）通路在这两种疾病中的作用来解释。我们报告了一例17岁患有1型神经纤维瘤病且具有类似努南综合征特征的男孩病例，他主诉背部逐渐出现蓝灰色皮损。