弹性假黄瘤

Pseudoxanthoma elasticum.

作者信息

Ohtani Toshio, Furukawa Fukumi

机构信息

Department of Dermatology, Wakayama Medical University, Japan.

出版信息

J Dermatol. 2002 Oct;29(10):615-20. doi: 10.1111/j.1346-8138.2002.tb00190.x.

DOI:10.1111/j.1346-8138.2002.tb00190.x

PMID:12432991

Abstract

Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP-binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still unknown now mutations in the ABCCC6 gene can lead to manifestations of PXE.

摘要

弹性假黄瘤（PXE）是一种遗传性疾病，其特征为皮肤、眼部和血管病变，这些病变是由弹性纤维变性引起的。最近，已证明ATP结合盒亚家族C成员6（ABCC6）基因是导致PXE的原因，迄今为止已鉴定出43种突变。然而，目前仍不清楚ABCC6基因中的突变如何导致PXE的表现。