【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。更多还原

【Abstract】 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.更多还原