色素血管性斑痣性错构瘤病4例临床分析及文献复习

探讨色素性血管斑痣性错构瘤病患者的临床分型、发病机理、伴随系统症状以及治疗。通过报道笔者科室收集的4例色素血管性斑痣性错构瘤病,进行临床症状分型、常规检查、激光治疗并复习相关文献。发现4例患者中1例属于Cesioflanme型,1例对应Ⅱa型,1例对应Ⅱb型,2例归于Spilorosea型对应Ⅲa。GNA11和GNAQ基因突变可能导致了疾病发生。常见合并症有Sturge-Weber综合征、Klippel-Trenaunay综合征、眼球黑变病等。激光治疗后皮损外观改善。因此,色素血管性斑痣性错构瘤病因其临床表现及合并系统症状的多样性极易误诊漏诊。一旦发现,应进行系统检查。早诊断行激光治疗能够提高患者生活质量。

Analysis of 4 Cases of Phakomatosis Pigmentovascularis and Review of the Literature

The clinical classification,pathogenesis, concomitant systemic symptoms and treatment of patients with Phakomatosis Pigmentovascularis were investigated. Four cases of Phakomatosis Pigmentovascularis were collected by our department. The clinical symptoms were classified. Routine examination and laser treatment were completed. Related literature were reviewed. Four cases of patients with type 1 and 3 belong to Cesioflanme. Type 1 correspond Ⅱa. Type 3 correspond Ⅱb. Cases of type 2 and 4 belong to Spilorosea corresponding Ⅲ a. Mutations in the GNA11 and GNAQ genes may have caused the disease. Common complications include Sturge-Weber syndrome, Klippel-Trenaunay syndrome and eye melanosis. The appearance of skin lesions was improved after laser treatment. The variety of clinical manifestations and combined systemic symptoms of Phakomatosis Pigmentovascularis is easily misdiagnosed and missed diagnosis. The system should be checked. Early diagnosis and laser therapy can improve patients’ quality of life.