Pseudoxantoma elasticum, as repetitive upper gastrointestinal hemorrhage cause in a pregnant woman
Pseudoxantoma elasticum, as repetitive upper gastrointestinal hemorrhage cause in a pregnant woman
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DOI：
10.3748/wjg.v13.i28.3897
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发表时间：
2007-07-28
影响因子：
4.3
通讯作者：
Uyar, Asur
中科院分区：
文献类型：
--
作者：
Goral, Vedat;Demir, Dogan;Uyar, Asur
弹性假黄瘤是一种罕见的遗传性多系统疾病，影响皮肤，眼睛和心血管系统。一位28岁的女性因胃肠道出血到急诊室就诊。该患者在过去8年中在胃肠病诊所接受了10多次监测，在其既往妊娠史中发现了重复性出血。患者检查显示以下体征和症状：视网膜色素上皮萎缩;眼底典型血管样条纹和橙色斑点; OCT（光学相干断层扫描）中视网膜神经纤维变薄;颈部区域双侧和网状乳头状病变伴黄色（拔毛鸡外观）;眼底存在出血灶;肾脏肾钙质沉着症。根据这些症状，患者被诊断为弹性纤维假黄瘤。皮肤活检证实了弹性软骨假黄瘤的诊断。PXE是一种罕见的遗传性疾病。弹性软骨假性黄色瘤的早期诊断对于减少全身并发症和通过遗传咨询告知其他家庭成员是重要的。(C)2007年WJG。All rights reserved.
Pseudoxantoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. A twenty-eight-year-old female has presented to emergency unit with the complaint of gastrointestinal hemorrhage. This patient, who had been monitored in the gastroenterology clinic more than 10 times in the past 8 years, noted a repetitive hemorrhage during her previous pregnancy in her history. The examination of the patient revealed the following signs and symptoms: atrophy in the epithelium of the retina pigment; typical angioid streaks and peau d'orange finding in the fundus; thinning of the retinal nerve fiber in OCT (optic coherence tomography); bilateral and reticular papillary lesions with yellowish-color in the neck region (plucked chicken appearance); presence of bleeding foci in fundus; and nephrocalcinosis in kidneys. In light of these symptoms, the patient was diagnosed with pseudoxantoma elasticum. Skin biopsy confirmed the pseudoxantoma elasticurn diagnose. PXE is an uncommon, hereditary disease. Early diagnosis of pseudoxantoma elasticurn cases, is important for minimalizing systemic complications and informing the other family members through genetic counseling. (C) 2007 WJG. All rights reserved.