Abstract：
Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries. It shows characteristic yellowish papules on the skin around the nape of neck along with looseness of skin over flexural surfaces. PXE shows marked phenotypic heterogeneity. Complications related to arterial wall and retinal Bruchs\' membrane calcification occur later in life; early diagnosis therefore helps keep patient on follow up for development of the same. In Indian patients, classic skin changes may be missed clinically making histopathology pivotal in diagnosis and patient management.
摘要：
弹性假性黄瘤（PXE）是一种罕见的遗传性疾病，由于肝脏代谢缺陷而发生，主要表现在皮肤上，眼睛和动脉颈背周围皮肤呈特征性黄色丘疹，弯曲表面皮肤松弛。PXE显示出明显的表型异质性。与动脉壁和视网膜膜钙化相关的并发症发生在以后的生活中；因此，早期诊断有助于患者对其发展进行随访。在印度患者中，临床上可能会错过经典的皮肤变化，因此组织病理学在诊断和患者管理中至关重要。
