Mitchell Benjamin J, Rogers Gary F, Wood Benjamin C
Georgetown University School of Medicine.
Division of Plastic Surgery, Children's National Health System, Washington, DC.
J Craniofac Surg. 2019 Jan;30(1):184-185. doi: 10.1097/SCS.0000000000004887.
Schimmelpenning syndrome is a neurocutaneous disorder characterized by craniofacial nevus sebaceus that fall along embryonic cutaneous lines and tend to be associated with neurological, ocular, skeletal, and vascular abnormalities. We report a child with extensive nevus sebaceus of the scalp, face, and thorax and other unusual physical findings who was found to have a mosaic mutation of KRAS c.35G>A p.12D pathognomonic of Schimmelpenning syndrome.
施密尔彭宁综合征是一种神经皮肤疾病，其特征为沿胚胎皮肤线分布的颅面部皮脂腺痣，且往往与神经、眼部、骨骼和血管异常相关。我们报告了一名患有头皮、面部和胸部广泛皮脂腺痣及其他异常体征的儿童，该儿童被发现存在KRAS基因c.35G>A p.12D的镶嵌突变，这是施密尔彭宁综合征的特征性突变。
Zotero 插件