Yenior Ashley L, Pujalte George, Nadwodny Jeff, Costa Lorena C, Presutti Richard J
Department of Family Medicine, Mayo Clinic, Jacksonville, USA.
College of Medicine, Santa Casa de Misericordia de Vitoria, Vitoria, BRA.
Cureus. 2021 Oct 4;13(10):e18481. doi: 10.7759/cureus.18481. eCollection 2021 Oct.
Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive connective tissue disease that manifests primarily in the skin, eyes, vasculature, and gastrointestinal tract. Most cases occur in women and are present in the third decade of life. Diagnosis is confirmed via skin biopsy or by genetic testing that reveals a variant gene. We present the case of a 68-year-old woman who came to the clinic to discuss her daughter's diagnosis of PXE, specifically, what testing she and her family should pursue. A family pedigree revealed a strong family history of abdominal aortic aneurysm (AAA). Although PXE has not been directly related to AAA, this raised concern for familial connective tissue disease. It was recommended that all family members undergo AAA screening with ultrasound, but that not all family members warranted genetic testing. Patients diagnosed with PXE should establish care with specialists to monitor for adverse outcomes.
弹性假黄瘤（PXE）是一种罕见的常染色体隐性结缔组织疾病，主要表现在皮肤、眼睛、血管和胃肠道。大多数病例发生在女性身上，发病年龄在30岁左右。通过皮肤活检或基因检测发现变异基因来确诊。我们报告一例68岁女性病例，她到诊所咨询其女儿的PXE诊断情况，特别是她和家人应进行哪些检测。家族谱系显示有腹主动脉瘤（AAA）的家族病史。虽然PXE与AAA没有直接关联，但这引发了对家族性结缔组织病的担忧。建议所有家庭成员接受超声AAA筛查，但并非所有家庭成员都需要进行基因检测。被诊断为PXE的患者应寻求专科医生的治疗，以监测不良后果。
