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视网膜色素上皮局灶性先天性异常。

Focal congenital anomalies of the retinal pigment epithelium.

作者信息

Gass J D

机构信息

Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami School of Medicine, Florida 33131.

出版信息

Eye (Lond). 1989;3 ( Pt 1):1-18. doi: 10.1038/eye.1989.2.

DOI:10.1038/eye.1989.2
PMID:2591592
Abstract

The terms, 'hamartoma', 'choristoma', 'phacoma' (mother-spot), and 'naevus', are used to describe benign developmental tumours or placoid lesions. Stedman's Medical Dictionary defines a hamartoma as: 'A focal malformation that resembles a neoplasm grossly and even microscopically, but results from faulty development in an organ; it is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element, normally present in that site, which develop and grow at virtually the same rate as normal components, and are not likely to result in compression of the adjacent tissue (in contrast to neoplastic tissue).' A choristoma is defined as 'a mass formed by maldevelopment of tissue of a type not normally found at that site.' Phacoma is defined as, 'a hamartoma found in phacomatosis,' a group of hereditary diseases characterised by hamartomas of multiple tissues. A naevus is a, 'birthmark; a circumscribed malformation of the skin, especially if coloured by hyperpigmentation or increased vascularity; it may be predominantly epidermal, adnexal, melanocytic, vascular, or mesodermal, or a localised overgrowth of melanin-forming cells arising in the skin early in life.' Ophthalmologists have adopted the term to refer to developmental melanocytic lesions of the uveal tract, but heretofore have not used it to describe developmental melanocytic, glial, or vascular lesions of the retina. The purpose of this report is to summarise the author's observations and concepts concerning focal lesions that probably are developmental tumours and placoid lesions composed of either entirely or in part retinal pigment epithelium (RPE). Two of the lesions are tumefactions and may properly be termed 'hamartomas'. Four of the lesions are placoid and might better be described as naevi. Two are composed of hypertrophied RPE cells engorged with melanin granules, one is presumed to be hypertrophied RPE cells filled with a white pigment of unknown nature and one is composed of RPE cells containing no pigment. Three are widely recognised, three others are not.

摘要

术语“错构瘤”“迷离瘤”“母斑瘤”(母斑)和“痣”用于描述良性发育性肿瘤或斑状病变。《斯泰德曼医学词典》将错构瘤定义为:“一种局灶性畸形,在大体甚至显微镜下都类似于肿瘤,但由器官发育缺陷引起;它由组织成分的异常混合,或单个成分的异常比例组成,这些成分通常存在于该部位,其发育和生长速度与正常成分几乎相同,并且不太可能导致对相邻组织的压迫(与肿瘤组织相反)。”迷离瘤被定义为“由通常不在该部位发现的组织发育异常形成的肿块”。母斑瘤被定义为“在母斑病中发现的错构瘤”,母斑病是一组以多种组织错构瘤为特征的遗传性疾病。痣是“胎记;皮肤的局限性畸形,特别是如果因色素沉着过度或血管增多而有颜色;它可能主要是表皮性、附属器性、黑素细胞性、血管性或中胚层性的,或者是生命早期在皮肤中出现的形成黑色素细胞的局部过度生长”。眼科医生采用这个术语来指代葡萄膜的发育性黑素细胞病变,但迄今为止尚未用它来描述视网膜的发育性黑素细胞、神经胶质或血管病变。本报告的目的是总结作者对可能是发育性肿瘤和斑状病变的局灶性病变的观察结果和概念,这些病变全部或部分由视网膜色素上皮(RPE)组成。其中两个病变是肿块,可恰当地称为“错构瘤”。四个病变是斑状的,可能更好地描述为痣。两个由充满黑色素颗粒的肥大RPE细胞组成,一个被认为是充满性质不明的白色色素的肥大RPE细胞,一个由不含色素的RPE细胞组成。三个是广为人知 的,另外三个则不是。

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