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胶原蛋白和弹性组织遗传性疾病的眼部及皮肤表现

Ocular and cutaneous manifestations of heritable disorders of collagen and elastic tissue.

作者信息

Rothe M J, Grant-Kels J M, Kels B D

机构信息

University of Connecticut Health Center, Farmington.

出版信息

Dermatol Clin. 1992 Jul;10(3):591-5.

PMID:1617816
Abstract

Ocular and cutaneous stigmata are hallmarks of the heritable disorders of collagen and elastic tissue. Awareness of the oculocutaneous features is essential both to aid diagnosis and to direct management of affected patients. Although the angioid streaks of PXE, blue sclerae of OI, ocular fragility of EDS and ectopia lentis of Marfan syndrome are the best-known ocular signs of these disorders, other relevant ophthalmologic symptoms often accompany such classic findings.

摘要

眼部和皮肤体征是遗传性胶原蛋白和弹性组织疾病的标志。了解眼皮肤特征对于辅助诊断和指导对受影响患者的治疗至关重要。虽然假性黄色瘤病的血管样条纹、成骨不全的蓝色巩膜、埃勒斯-当洛综合征的眼部脆弱性以及马凡综合征的晶状体异位是这些疾病最著名的眼部体征,但其他相关的眼科症状通常伴随这些典型表现。

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