睑缘粘连-外胚层发育不良-唇/腭裂综合征1例

Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip and Palate Syndrome:A Case Report

患者男,12岁,头皮、颈、躯干色素沉着11年。皮肤科情况:皮肤干燥,网状色素沉着,头发、眉毛稀少,睫毛缺失,甲营养不良。唇裂、腭裂修复术后瘢痕。全外显子测序显示,患儿TP63基因突变:c.1747G>T(p.D583Y)。诊断:睑缘粘连-外胚层发育不良-唇/腭裂综合征。目前随访中。

A 12-year-old male patient presented with hyperpigmentation scattered all over the scalp,neck and trunk for 11 years. Dermatological examination showed dry skin,reticulate pigmentation,sparse hair and eyebrows,loss of eyelashes,nail dystrophy,and postoperative scarring of cleft lip and palate.Whole exome sequencing showed that the patient had a mutation in the TP63 gene:c.1747G>T(p.D583Y).The case was diagnosed as ankyloblepharon-ectodermal dysplasia-cleft lip and palate syndrome.Currently,the patient is being followed-up.