色素血管性斑痣性错构瘤病的研究现状与探索

Development and Exploration of Phacomatosis Pigmentovascularis

色素血管性斑痣性错构瘤病(phacomatosis pigmentovascularis,PPV)是一种罕见疾病,以色素痣伴血管畸形为特征的一组疾病。本病发病机制尚不明确,研究发现其发生与GNAQ及GNA11基因体细胞突变相关。2002年Happle提出了经典分类方法,2003年Torrelo等提出了第五型,2005年Happle等提出新的PPV分类方法。临床上,血管畸形中最常见的是葡萄酒色斑(鲜红斑痣),色素异常性疾病表现为异位蒙古斑、伊藤痣、太田痣、贫血痣等。根据皮损及辅助检查诊断明确后,是否治疗取决于其皮肤外表现,皮肤表现可通过脉冲染料激光及调Q开关激光改善,如合并皮肤外表现,其治疗是一个长期复杂的过程,需多学科联合管理,目前主要是对症处理。随着分子诊断技术的发展,基因靶向治疗是一种新的选择。

Phacomatosis pigmentovascularis(phacomatosis pigmentovascularis,PPV)is a group of rare disease characterized by widely distributed pigmented nevus with vascular malformations.The pathogenesis of this disease is not yet clear.Studies have found that GNQA and GNA11 gene mutations are highly expressed in PPV patients.In 2002,Happle proposed the classic classification method,in 2003,Torrelo et al.proposed the fifth type,and in 2005,Happle et al.proposed a new PPV classification method.Clinically,port wine stains(nevus flummeus)are the most commonly looked in vascular malformations,pigmented nevus manifested as ectopic mongolian spots,ito nevus,ota nevus,and anemic nevus.After the diagnosis is confirmed based on the skin lesions and auxiliary examinations,treatment depends on the external appearance of the skin.The appearance of the skin can be improved by pulsed dye laser and Q-swtiched laser.Such as combined external appearance,the management is a rather complex,lengthy process requiring the experience of different specialties.The corresponding management is symptomatic.The continual evolving of molecular diagnosis enables the possibility of novel therapies targeting specific genes in the future.