鲜红斑痣（Port-wine stains, PWS）是一种皮损主要发生于颜面部的先天性血管疾病，极为影响患者的身心健康。目前主要采用脉冲染料激光治疗PWS，但大部分患者疗效欠佳。而PWS的发病机制尚不清楚，可能与体细胞基因突变、血管神经比例异常、遗传等因素相关。因此进一步了解PWS的发病机制，为PWS的治疗提供新思路极为重要。在前期研究中，我们发现随着疾病进展，血管组成和真皮基质发生转变，同时还发现PWS皮损中存在多个位点基因突变，进一步验证发现以AHNAK2基因突变为主。AHNAK2与血管重塑和髓鞘形成相关，因此我们推测PWS的发病和进展可能与AHNAK2基因突变相关。为证明这一假说，我们将采用Sanger测序、免疫荧光、RNA-Seq、原位杂交等方法，从患者样本、细胞实验、动物实验层面，研究AHNAK2基因突变在PWS中的作用及机制研究，从而为PWS的治疗提供理论依据及思路。

Port-wine stains (PWS) are a congenital vascular disease, mainly occurring on the face and greatly influencing physical and mental health. Pulsed dye laser is mainly therapy for PWS, but it showed unsatisfying treatment effect in the majority of patients. The pathogenesis of PWS is unclear and some studies suggest that it may be associated with somatic gene mutations, abnormal ratio of nerves to blood vessels, and heredity. Therefore, it is so important to understand the pathogenesis of PWS which may provide new ideas for the treatment of PWS. In previous studies, we found that the composition of vessels and dermal matrix changed with the progression of the PWS, and we also found that AHNAK2 mutations were the main gene mutations. AHNAK2 is associated with vascular remodeling and myelination. Therefore, we speculate that the pathogenesis of PWS may be related to the mutation of AHNAK2. To investigate the mechanism of AHNAK2 gene mutations in PWS, we will use Sanger sequencing, immunofluorescence, RNA-Seq, in situ hybridization and other methods to study samples of patients, cells and animals. Thus, it may provide theoretical basis for the treatment of PWS.