[1]梁 文,蒋雨薇,方 蔷,等. 色素血管性斑痣性错构瘤病4例临床分析及文献复习[J].中国美容医学,2020,(3):59-62.
　LIANG Wen,JIANG Yu-wei,FANG Qiang,et al. Analysis of 4 Cases of Phakomatosis Pigmentovascularis and Review of the Literature[J].Medical Aesthetics and Beauty,2020,(3):59-62.
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 色素血管性斑痣性错构瘤病4例临床分析及文献复习
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《中国美容医学》[ISSN:1008-6445/CN:61-1347/R]

卷:
期数:
2020年3期
页码:
59-62
栏目:
出版日期:
2020-04-15

文章信息/Info

Title:
 Analysis of 4 Cases of Phakomatosis Pigmentovascularis and Review of the Literature
文章编号:
1008-6455（2020）03-0059-04
作者:
 梁 文; 蒋雨薇; 方 蔷; 陈 瑞; 晏洪波
Author(s):
 LIANG Wen;  JIANG Yu-wei;  FANG Qiang;  CHEN Rui; YAN Hong-Bo
关键词:
 ; [关键词]色素血管性斑痣性错构瘤; 临床表现; 临床分型; 发病机理
Keywords:
 ; Key words: Phakomatosis Pigmentovascularis;  clinical manifestations;  clinical classifi cation;  pathogenesis
分类号:
R732.2
文献标志码:
B
摘要:
[摘要]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。

Abstract:
Abstract: The clinical classifi cation,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 classifi ed. Routine examination and laser treatment were completed . Related literature were reviewed.
Four cases of patients with type 1 and 3 belong to Cesiofl anme. 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.

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更新日期/Last Update: 2020-04-28