Schepis C, Greco D, Siragusa M, Batolo D, Romano C
Unit of Dermatology and Department of Pediatrics, Oasi Institute (IRCCS), Troina, Italy.
Pediatr Dermatol. 2001 Jan-Feb;18(1):34-7. doi: 10.1046/j.1525-1470.2001.018001034.x.
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.
我们描述了一名患有鲁宾斯坦-泰比综合征的8岁男孩，这是一种多先天性异常/智力障碍综合征，其特征为拇指和大脚趾宽大、特殊面容以及由转录共激活因子CREB结合蛋白（CBP）突变引起的智力障碍。他右侧有淡黄色丘疹样皮损，沿布拉斯科线呈窄带状分布，组织学检查后来证实为表皮痣。由于该患者不符合表皮痣综合征的纳入标准，故已排除该诊断。这种关联可能是巧合。
