弹性纤维性假黄瘤一例  

Pseudoxanthoma elasticum:a case report

作　　者：黄思琪 张誉馨 赵梓廷 王傲雪[1] HUANG Siqi;ZHANG Yuxin;ZHAO Ziting;WANG Aoxue(Department of Dermatology,The Second Hospital of Dalian Medical University,Dalian 116027,China;Second School Clinical Medicine,Southern Medical University,Guangzhou 510280,China)

机构地区：[1]大连医科大学附属第二医院皮肤科,辽宁大连116027 [2]南方医科大学第二临床医学院,广东广州510280

出　　处：《中国麻风皮肤病杂志》2024年第9期654-656,共3页China Journal of Leprosy and Skin Diseases

摘　　要：患者,女,12岁。颈前、胸腹部弥漫性黄色斑丘疹3个月。皮损组织病理示真皮层内见灶状分布的纤维组织,免疫组化示CD163(+),Ki-67(约1%+)。特殊染色:Van Gieson染色(+),弹力纤维染色(±),网织纤维染色(-)。行全外显子组高通量测序,基因检测结果为ABCC6基因发生c.2312del半合子突变,患者父母及家属均无相关症状,未进行基因检测,突变来源未知。结合患者临床表现及基因结果,诊断为弹性纤维性假黄瘤,未予治疗,目前密切随访中。A 12-year-old female presented with diffuse yellow plaques on the anterior neck,chest and abdomen for 3 months.Histopathology of skin lesion showed that twisted and broken fibrous tissue focally distributed in the dermis.Immunohistochemical results showed the papule cells positive for CD163,Ki-67(1%).Specific stain showed positive for Van Gieson,weakly positive for elastic fiber,negative for mesh fiber.Genetic testing revealed a hemigygotic mutation of c.2312del in ABCC6 gene.The patient's parents and family members had no related symptoms.They did not undergo genetic testing,and the origin of the mutation was unknown.According to the clinical manifestations and genetic results,the patient was diagnosed as pseudoxanthoma elasticum,who was not treated and is currently under close follow-up.

关 键 词：弹性纤维性假黄瘤 弹性纤维 基因突变 

分 类 号：R596.1[医药卫生—内科学]