Selected disorders of connective tissue: pseudoxanthoma etasticum, cutis laxa, and tipoid proteinosis

被引：22

作者：

Ringpfeil, F ^{[1
]}

机构：

[1] Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

来源：

CLINICS IN DERMATOLOGY | 2005年 / 23卷 / 01期

关键词：

D O I：

10.1016/j.clindermatol.2004.09.006

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

There has been progress made in the understanding of 3 Mendelian disorders: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis cutis and mucosac. While they are primary connective tissue diseases, their names imply a connection to the skin, and in fact, it is often the dermatologist who makes the diagnosis. It seems rational that defects in various extracellular matrix proteins cause lipoid proteinosis or subtypes of cutis laxa, yet the discovery of a liver- and kidney-based transmembrane transporter as the culprit of pseudoxanthoma elasticum was rather surprising and may shed new light on elastic tissue homeostasis. (c) 2005 Elsevier Inc. All rights reserved.

引用

页码：41 / 46

页数：6

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