弹性纤维假黄瘤研究进展  

Advances in Pseudoxanthoma Elasticum

作　　者：王惠芬 翟志芳 WANG Huifen;ZHAI Zhifang(Department of Dermatology,the First Affiliated Hospital of Army Medical University,Chongqing 400038,China)

机构地区：[1]陆军军医大学第一附属医院皮肤科,重庆400038

出　　处：《罕见病研究》2023年第2期313-318,共6页Journal of Rare Diseases

摘　　要：弹性纤维假黄瘤(PXE)是一种罕见的以结缔组织异位钙化为特征的遗传性疾病,主要累及皮肤、视网膜、心血管等多种器官和系统,特征性的病理改变为真皮弹性纤维异常钙化和碎裂。其发病主要与ABCC6基因突变有关,ABCC6参与维持血清无机焦磷酸(PPi)的稳态,PPi是异位钙化的主要抑制剂,PPi缺乏可导致异位钙化的发生。PXE的临床表现具有高度异质性,典型皮损为淡黄色扁平丘疹、斑块,后期可表现为皮肤松弛、皱缩等症状,眼部、心血管等并发症则严重影响患者的健康及生活质量。PXE治疗包括改善症状、系统性抗异位钙化、基因治疗等方面。本文就PXE临床表现、发病机制及诊断治疗的研究进展进行综述。Pseudoxanthoma elasticum(PXE)is a rare,genetic,metabolic disease characterized by ec⁃topic calcification of connective tissue that primarily affects the skin,retina and cardiovascular system,which characteristic histopathology is calcification and fragmentation of elastic fibers in dermis.PXE is mainly caused by ABCC6 gene mutation,which is one of the important regulators of the serum inorganic pyrophosphate(PPi)homoeostasis,a main inhibitor of ectopic calcification and the deficiency of PPi can lead to ectopic calcification.The clinical features are highly heterogeneous.Typical skin lesions of PXE are yellowish flat pap⁃ules and plaques,and the symptoms of skin relaxation and shrinkage can be manifested in the later stage.Reti⁃na,cardiovascular and other complications seriously affect the health and quality of life of patients.The current therapy of PXE include symptom improvement,systemic anti⁃ectopic calcification medicine,gene therapy and so on.We review the pathogenesis,clinical manifestations,diagnosis and treatment of PXE.

关 键 词：弹性纤维假黄瘤 ABCC6基因 异位钙化 

分 类 号：R596[医药卫生—内科学] R751[医药卫生—临床医学]