Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data
Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data
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DOI：
10.1097/01202412-200001000-00003
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发表时间：
2000-01-01
影响因子：
1.1
通讯作者：
Wientroub, S
中科院分区：
文献类型：
--
作者：
Hefti, F;Bollini, G;Wientroub, S
先天性胫骨假关节是一种罕见的疾病，有不同的病史。假关节通常在出生时不存在（因此不是真正的先天性），但发生在生命的第一个十年。1891年，佩吉特第一个描述了一个病例。病因不明。神经纤维瘤病起作用;在大约50%的患者中。在其他方面，遗传和机械因素是有争议的。已经提出了各种（形态学）分类系统（Andersen，Boyd; Crawford）。由于外观在疾病过程中发生变化，所有分类系统的价值都是有限的：决定因素是疾病分类的阶段。由于这种疾病的罕见性和其历史的可变性，欧洲儿科骨科协会决定对这种疾病进行多中心研究。本文介绍了有关患者的流行病学资料。收集了来自13个国家的340名患者的数据。男性200例（58.8%），女性140例（41.2%）。165例患者（48.5%）右侧受累，172例患者（50.6%）左侧受累; 3例患者双侧受累。神经纤维瘤病的症状出现在54.7%。192例患者的组织学检查显示，45.3%的非特异性外观，15.6%的超微结构类似纤维异常增殖症，39%的组织学证据神经纤维瘤病。大多数病变最初位于胫骨的中部或远端三分之一。在29%的本地化改变的过程中的疾病。
Congenital pseudarthrosis of the tibia is a rare disease with a variable history. The pseudarthrosis is usually not present at birth (and therefore is not truly congenital) but occurs during the first decade of life. Paget in 1891 was the first to describe a case. The etiology is unknown. Neurofibromatosis plays a role;in approximately 50% of patients. In the others, hereditary and mechanical factors are debated. Various (morphologic) classification systems have been proposed (Andersen, Boyd; Crawford). Because the appearance changes during the course of the disease, all classification systems have limited value: the determining factor is the stage of the disease at which it was classified. Because of the rarity of the disease and the variability of its history, the European Pediatric Orthopaedic Society decided to carry out a multicenter study on this disease. This paper presents the epidemiologic data on the patients involved. Data have been gathered on 340 patients from 13 countries. Two hundred patients were male (58.8%), 140 were female: (41.2%). The right side was affected in 165 patients (48.5%) and the left side in 172 (50.6%); 3 patients had bilateral disease. Symptoms of neurofibromatosis were present in 54.7%. Histologic examinations in 192 patients showed a nonspecific appearance in 45.3%; in 15.6% the ultrastructure resembled fibrous dysplasia, and in 39% there was histologic evidence of neurofibromatosis. Most of the lesions were initially localized in the middle or distal third of the tibia. In 29% the localization changed during the course of the disease.