Cowden综合征(Cowden syndrome, CS, MIM 158350)又称Cowden病(Cowden disease, CD)、多发性错构瘤综合征或多发性毛鞘瘤,是一种临床罕见的以内、中、外胚层来源的多发性错构瘤和易发生甲状腺、乳腺和内分泌恶性肿瘤为主要特征的常染色体显性遗传病。 历史 HISTORY ●1940年,由Co...
英文名:multipletrichilemmomainCowdendisease缩写: 别名:多发性错构瘤综合征;考登病中的多发性毛外根鞘瘤;Cowden病中的多发性毛外根鞘瘤 疾病代码: ICD:L98.8 概述:Cowden病中的多发性毛鞘瘤(multipletrichilemmoma)又称多发性错构瘤综合征。是一种有独特皮肤表现的常染色体遗传性皮肤病。皮损位于面部,主要在口周...
小脑发育不良性神经节细胞瘤(dysplastic cerebellar gangliocytoma)又名Lhermitte-Duclos病(Lhermitte-Duclos disease,LDD),是一种极为罕见的颅内良性肿瘤, 2007年版WHO分类为I级[1]。 1920年由Lhermitte和Duclos首次报道[2],国内外至今发现约200例,绝大部分为个案报道[3]。其诊断和治疗目前均有一定争议。该病曾经有...
Gilbert HD, Plezia RA, Pietruk T. Cowden's disease (multiple hamarto- ma syndrome). J Oral Maxillofac Surg 1985; 43: 457-60.Thyresson, H. N. Doyle, J. A. ( 1981 ) Cowden's Disease (Multiple hamartoma syndrome) . Mayo Clinic Proceedings , 56 , 179 – 184 .Gilbert, HD, Plezi...
Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that can be associated with a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. Originally described i
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. FISTAROL,Susanna K,ANLIKER,... - 《European Journal of Dermatology》 - 2002 - 被引量: 127 Cowden disease or multiple hamartoma syndrome - Cutaneous clue to inter...
Cowden's disease. A cutaneous marker of breast cancer Cowden's disease features facial trichilemmomas (a benign tumor of follicular epithelium), acral keratoses on the limbs, and oral mucosal papillomas and fi... MH Brownstein,M Wolf,JB Bikowski - 《Cancer》 被引量: 1311发表: 1978年 Cowd...
我们院影像科医生诊断为小脑发育不良性神经节细胞瘤(不得不说我们影像科医生的实力还是不容小觑的)。小脑发育不良性神经节细胞瘤(dysplastic gangliocytoma of cerebellum),最早是由Lhermitte和Duclos于1920年报道,故也称之为Lhermitte-Duclos病(Lhermitte-Duclos disease, LDD)。
[3] HanChen; Jinze Wu; Sarosh R. Irani, FRCP, DPhil. Distinctive Magnetic Resonance Imaging Findings in IgLON5 Antibody Disease. JAMA Neurology. 2019.4 E1-E2. doi : 10.1001 /jamaneurol . 2019.3638 [4] 脸飞霞,曹立.遗传性弥漫...
我们院影像科医生诊断为小脑发育不良性神经节细胞瘤(不得不说我们影像科医生的实力还是不容小觑的)。小脑发育不良性神经节细胞瘤(dysplastic gangliocytoma of cerebellum),最早是由Lhermitte和Duclos于1920年报道,故也称之为Lhermitte-Duclos病(Lhermitte-Duclos disease, LDD)。