Bracq H, Catier P, Lemarec B, Babut J M
Chir Pediatr. 1980;21(6):401-5.
The authors report a clinical and radiographic course of a 16 years old caucasian girl with a progressive deformation of her skeleton. The primary lesions occur in knees and wrists. This disease was at first considered as a rheumatoid arthritis, then as a dysplasia epiphysialis multiplex, and now as essential deformans osteolysis (with carpal lysis, shortening of the forearm bones, dislocation of the elbows, disparition of the humeral and femoral heads, contracture of hips and knees, posterior tarsal lysis, and kypho-scoliosis). The clinical (particularly ophtalmologic), biological (including inflammatory, phospho-calcic and nephrologic evaluation with mucopolysaccharidosis urinary excretion) and histological (skin, muscle and bone) check-up were normal. They review the different classification established on lesion topography, on association or not with a nephropathy, finally on an dominant or recessive autosomal inheritance. Then the authors think that their case is similar to the ones of Winchester and Hollister. They discuss the etiopathogenic factors, and do not consider their case as a new mucopolysaccharidosis, but rather as a generalized disease of the collagen of bones.
作者报告了一名16岁白种女孩骨骼进行性变形的临床和影像学病程。主要病变发生在膝盖和手腕。这种疾病最初被认为是类风湿性关节炎，随后被认为是多发性骨骺发育异常，现在则被认为是原发性骨质溶解症（伴有腕骨溶解、前臂骨缩短、肘部脱位、肱骨头和股骨头消失、髋部和膝盖挛缩、后跗骨溶解以及脊柱后凸-侧凸）。临床检查（尤其是眼科检查）、生物学检查（包括炎症、磷钙代谢及肾病评估以及尿黏多糖排泄情况）和组织学检查（皮肤、肌肉和骨骼）均正常。作者回顾了基于病变部位、是否合并肾病以及最终基于常染色体显性或隐性遗传所建立的不同分类。然后作者认为他们的病例与温彻斯特和霍利斯特的病例相似。他们讨论了病因学因素，并不认为他们的病例是一种新的黏多糖贮积症，而是一种全身性骨胶原疾病。
