Goltz综合征一例

患者,女,9岁。生后即见面部、躯干和四肢有多个红褐色斑、斑片及斑块,无自觉症状。部分线状或色素性斑沿Blaschko线分布,左小腿见数个脂肪性疝,肛周见多个乳头瘤状皮损,耳廓和牙齿畸形。组织病理示:真皮胶原纤维和弹力纤维缺如。根据临床和组织病理学表现诊断为Goltz综合征。

3例灶性皮肤发育不良(Goltz综合征)

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characteri zed by multiple abnormalities of ectodermal and mesodermal origin. It is found p redominantly in females and is characterized by hypoplasia of skin and papilloma s. Three cases of focal dermal hypoplasia in infancy with unusual inheritance pa tterns are reported. Cutaneous features were atrophic reticulated scars involvin g the trunk and extremities following the lines of Blaschko. Papillomas were pre sent on the genitalia and in a periorificial distribution. Skeletal abnormalitie s included syndactyly, polydactyly and lobster claw deformities. Ophthalmologica l examination revealed strabismus and retinal colobomas.

新生儿Goltz综合征PORCN基因新发突变一例

目的报道1例新生儿Goltz综合征及PORCN基因新发突变位点。方法回顾性分析1例Goltz综合征新生儿的临床资料,采集患儿及父母外周静脉血,提取基因组DNA,全外显子组测序筛查患儿致病基因,Sanger测序法验证突变基因。结果患儿女,出生后7 h因头皮缺损、面部、双膝关节内侧多发表皮缺损、左耳廓畸形、右手中指无名指并指、右足拇指二趾并趾、左足呈“龙虾爪”畸形就诊。基因检测显示,患儿PORCN基因第4外显子第514~521位插入了一段重复的TCCTTCCA片段(c.514_521dupTCCTTCCA),导致第175号氨基酸由丝氨酸变为脯氨酸(p.S175Pfs*14),并引起该蛋白的翻译在此后第14个密码子终止。患儿父母均未检测到此杂合突变。该患儿确诊为Goltz综合征。结论Goltz综合征有多种表型,结合PORCN基因突变可确诊。c.514_521dupTCCTTCCA杂合突变为新突变。