一种伴有胶原蛋白和弹性蛋白超微结构异常的家族性皮肤松弛综合征。

A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.

作者信息

Marchase P, Holbrook K, Pinnell S R

出版信息

J Invest Dermatol. 1980 Nov;75(5):399-403. doi: 10.1111/1523-1747.ep12523655.

Abstract

A familial cutis laxa syndrome is reported in a mother and son. In addition, the son had Klippel-Tranaunay-Weber syndrome, which may be related to his underlying disorder. Ultrastructural examination of skin revealed previously recognized abnormalities of elastic tissue. In addition, abnormalities in collagen structure are demonstrated. The underlying defect in this disorder appears to result in abnormalities in both elastic tissue and collagen structure.

摘要

报道了一名母亲和儿子患有家族性皮肤松弛综合征。此外，儿子患有克-特-韦综合征，这可能与他的潜在疾病有关。皮肤的超微结构检查显示出先前已确认的弹性组织异常。此外，还证实了胶原蛋白结构异常。这种疾病的潜在缺陷似乎导致了弹性组织和胶原蛋白结构的异常。