Shields J A, Shields C L, Koller H P, Federman J L, Koblenzer P, Barbera L S
Ocular Oncology Service, Wills Eye Hospital, Philadelphia, PA 19107.
Retina. 1990;10(2):135-9. doi: 10.1097/00006982-199004000-00009.
Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder of the skin, characterized by persistent telangiectasia of the cutaneous blood vessels often associated with cutaneous ulcers. The only previously recognized ophthalmic association with this condition has been rare instances of unilateral congenital open angle glaucoma. The authors report their observations in a child in whom this cutaneous disorder was associated with congenital bilateral total retinal detachments and secondary neovascular glaucoma. The retinal detachments produced bilateral leukocoria simulating retinoblastoma. The cutaneous disorder and the ocular findings were confirmed histopathologically.
先天性大理石样皮肤毛细血管扩张症是一种罕见的先天性皮肤血管疾病，其特征为皮肤血管持续性扩张，常伴有皮肤溃疡。此前唯一被认可的与该病症相关的眼科表现是罕见的单侧先天性开角型青光眼病例。作者报告了他们对一名儿童的观察结果，该儿童患有这种皮肤疾病，并伴有先天性双侧视网膜全脱离和继发性新生血管性青光眼。视网膜脱离导致双侧白瞳症，酷似视网膜母细胞瘤。皮肤疾病和眼部表现均经组织病理学证实。
