Black B, Dooley J, Pyper A, Reed M
Department of Orthopaedics, University of Manitoba, Canada.
Clin Orthop Relat Res. 1993 Feb(287):212-7.
From 1986 through 1988, 266 persons (149 adults and 117 children) were screened for multiple hereditary exostosis (MHE) in an isolated northern Ojibway community. Physical examination and confirmation by roentgenogram skeletal survey disclosed 21 children (19.4%) and 14 adults (9.5%) affected with MHE. Forty-one percent of children had lesions detectable before ten years of age, some as early as two years of age. Seventy-four percent of the lesions were characteristically sessile. Although lesions about the knee were most common, sites previously thought to be uncommon such as the metatarsals, hand, and spine were involved in 40% of the children. No cases of malignant degeneration have occurred in the adult population. Severity and multiplicity of lesions in successive generations point to an oncogenic gene origin. This study shows striking variance from current literature and provides a unique and valuable baseline assessment of research on the cause and natural history of MHE.
1986年至1988年期间，在一个与世隔绝的北部奥吉布瓦社区对266人（149名成年人和117名儿童）进行了多发性遗传性骨软骨瘤（MHE）筛查。体格检查及X线骨骼检查确诊，发现21名儿童（19.4%）和14名成年人（9.5%）患有MHE。41%的儿童在10岁之前就可检测到病变，有些早在2岁时就出现了。74%的病变特征为无柄。虽然膝关节周围的病变最为常见，但以前认为不常见的部位，如跖骨、手部和脊柱，在40%的儿童中也有累及。成年人群中未发生恶性变病例。连续几代人病变的严重程度和多发性表明其起源于致癌基因。本研究结果与当前文献有显著差异，为MHE病因及自然史的研究提供了独特而有价值的基线评估。
