Toriello-Lacassie-Droste 综合征

定义 英文原文（暂无中文）

A rare ectodermal dysplasia syndrome characterized by aplasia cutis congenita and epibulbar dermoids. Affected individuals present mostly with multiple, asymmetrically distributed, hairless, non scarring, atrophic, congenital scalp lesions and unilateral or bilateral epibulbar dermoids with or without other ocular anomalies (including strabismus, nystagmus, microcornea, and microphthalmia). Eyelid coloboma, acrochordons, linear/cutaneous hyperpigmentation, mostly following Blaschko lines, can also be present. Giant cell granulomas of the jaws and nonossifying fibromas of the long bones are commonly observed in individuals starting from 5 years old. Additional and variable clinical features including growth failure, neurodevelopmental delay, epilepsy, learning difficulties, behavioral abnormalities, lymphedema, macrocephaly, cardiovascular defects, facial asymmetry and mild dysmorphism were reported in some patients.

别名

先天性表皮发育不良-眼球外层皮样囊肿综合征

基本事实

遗传方式

不适用

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

相关基因 1

临床表型 36

外部标识与链接