单卵双胞胎中结节性硬化症的不一致表达。

Discordant expression of tuberous sclerosis in monozygotic twins.

作者信息

Kondo S, Yamashina U, Sato N, Aso K

机构信息

Department of Dermatology, Yamagata University, School of Medicine, Japan.

出版信息

J Dermatol. 1991 Mar;18(3):178-80. doi: 10.1111/j.1346-8138.1991.tb03063.x.

DOI:10.1111/j.1346-8138.1991.tb03063.x

PMID:1885853

Abstract

A set of 20-year-old female Japanese twins, most probably monozygotic, had clinical evidence of tuberous sclerosis (TS). They were discordant for symptoms. One of the twins exhibited facial red-brown papules (adenoma sebaceum), a dorsal shagreen patch, intracerebral calcifications, angiomyolipoma in the right kidney, and hypopigmented macules; the other had only a few hypopigmented macules. Modification of TS gene expression by the effects of environmental (extrinsic) factors is suggested.

摘要

一组20岁的日本女性双胞胎，很可能是单卵双胞胎，有结节性硬化症（TS）的临床证据。她们的症状不一致。其中一个双胞胎表现出面部红棕色丘疹（皮脂腺瘤）、背部鲨鱼皮斑、脑内钙化、右肾血管平滑肌脂肪瘤和色素减退斑；另一个只有少数色素减退斑。提示环境（外在）因素的作用对TS基因表达有修饰作用。