Wakasa Minoru, Nakagawa Chihiro, Takamura Taka-Aki, Fujibayashi Kosuke, Akao Hironobu, Kitayama Michihiko, Shimizu Akira, Niida Yo, Kajinami Kouji
Department of Cardiology, Kanazawa Medical University, Japan.
Department of Dermatology, Kanazawa Medical University, Japan.
Atheroscler Plus. 2025 Mar 21;60:1-5. doi: 10.1016/j.athplu.2025.03.001. eCollection 2025 Jun.
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder characterized by fragmentation and calcification of the elastic fibers of the skin, eyes, and various arteries with highly variable clinical expression. PXE is predominantly caused by pathogenic variants of the gene, which encodes the ABCC6 efflux transporter; however, the precise mechanism responsible for clinical manifestation remains unclear. We herein report the case of a male patient with PXE with premature coronary stenosis as his first presentation requiring catheter intervention, in association with typical ocular and skin lesions; the latter was confirmed histologically. A molecular analysis revealed an isodisomy of 6.8 Mb in the 16p13.11 region containing the nonsense mutation p.(Gln199Ter) in the gene. We also describe the 25-year clinical course of this case, while focusing on cardiovascular lesions.
弹性假黄瘤（PXE）是一种罕见的常染色体隐性疾病，其特征为皮肤、眼睛和各种动脉的弹性纤维发生断裂和钙化，临床表现高度可变。PXE主要由ABCC6基因的致病变异引起，该基因编码ABCC6外排转运蛋白；然而，导致临床表现的确切机制仍不清楚。我们在此报告一例以冠状动脉狭窄为首发表现且需要进行导管介入治疗的男性PXE患者，该患者伴有典型的眼部和皮肤病变；后者经组织学证实。分子分析显示，在16p13.11区域存在6.8 Mb的等二体，该区域包含ABCC6基因的无义突变p.(Gln199Ter)。我们还描述了该病例25年的临床病程，重点关注心血管病变。
