色素血管性斑痣性错构瘤病（phakomatosis pigmentovascularis, PPV）是一种以血管畸形合并色素沉积异常为特征的罕见疾病，可仅表现为皮肤病变，也可合并多器官系统的损害。由于临床少见，医生对其了解甚少，随着基因检测和医学技术的发展，近年来对于PPV的研究有了进一步深入。该文总结了近年来的有关PPV的研究进展，从病因、发病机制、临床表现、诊断以及治疗进行概述，为该类疾病的诊断及治疗提供参考。“,”Phakomatosis pigmentovascularis (PPV) is a rare disease characterized by capillary malformation and melanocytic lesions. Clinical findings may be solely cutaneous or multisystem in nature. Due to the rare clinical situation, doctors are in lack of knowledge of PPV. But with the development of gene detection and medical technology, the researches on PPV have been further deepened in recent years. This review summarizes the research progress of PPV in the area of etiology, pathogenesis, clinical manifestations, diagnosis and treatment to provide references for the diagnosis and treatment of these diseases.