Goral Vedat, Demir Dogan, Tuzun Yekta, Keklikci Ugur, Buyukbayram Huseyin, Bayan Kadim, Uyar Asur
Dicle University School of Medicine, Department of Gastroenterology, Diyarbakir, Turkey.
World J Gastroenterol. 2007 Jul 28;13(28):3897-9. doi: 10.3748/wjg.v13.i28.3897.
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 elasticum diagnose. PXE is an uncommon, hereditary disease. Early diagnosis of pseudoxantoma elasticum cases, is important for minimalizing systemic complications and informing the other family members through genetic counseling.
弹性假黄瘤是一种罕见的遗传性多系统疾病,累及皮肤、眼睛和心血管系统。一名28岁女性因胃肠道出血就诊于急诊科。该患者在过去8年中在胃肠病诊所接受了10多次监测,其病史显示她在之前的妊娠期间有反复出血情况。对该患者的检查发现了以下体征和症状:视网膜色素上皮萎缩;眼底有典型的血管样条纹和橘皮样表现;光学相干断层扫描(OCT)显示视网膜神经纤维变薄;颈部区域有双侧网状乳头状病变,呈淡黄色(拔毛鸡外观);眼底有出血灶;肾脏有肾钙质沉着症。根据这些症状,该患者被诊断为弹性假黄瘤。皮肤活检证实了弹性假黄瘤的诊断。弹性假黄瘤是一种罕见的遗传性疾病。早期诊断弹性假黄瘤病例对于将全身并发症降至最低并通过遗传咨询告知其他家庭成员很重要。