Rubinstein-Taybi syndrome with epidermal nevus: A case report

被引:9
|
作者
Schepis, C
Greco, D
Siragusa, M
Batolo, D
Romano, C
机构
[1] IRCCS, Oasi Inst, Unit Dermatol, I-94018 Troina, EN, Italy
[2] IRCCS, Oasi Inst, Dept Pediat, I-94018 Troina, EN, Italy
[3] Univ Messina, Dept Human Pathol, Messina, Italy
关键词
D O I
10.1046/j.1525-1470.2001.018001034.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP), He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus, Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation, This association may be coincidental.
引用
收藏
页码:34 / 37
页数:4
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