Ikegawa S, Nagano A, Matsushita T, Nakamura K
Department of Orthopaedic Surgery, Faculty of Medicine, University of Tokyo, Japan.
Nihon Seikeigeka Gakkai Zasshi. 1992 May;66(5):460-6.
We have described a 10-year-old Japanese boy and his father with metachondromatosis characterized by multiple exostoses, enchondromas, and periarticular calcification or ossification and reviewed the literature on this condition. The boy developed bilateral epiphyseal changes in the hips mimicking Perthes' disease. These cases are the first Japanese individuals with this disorder. The natural history and the associated disorders of metachondromatosis are also discussed in this paper. Metachondromatosis is an inherited skeletal dysplasia characterized by multiple cartilaginous exostoses, multiple enchondromas, and periarticular calcification or ossification. The mode of inheritance of the disease is autosomal dominant. In 1971, Maroteaux first described the disorder in 6 patients of 2 kindreds. Since then, 22 cases have been reported. However, no Japanese patient with this disorder has been described to date. We herein report a Japanese boy and his father with this rare bone dysplasia. The boy developed bilateral epiphyseal lesions in the femoral heads mimicking Perthes' disease.
我们描述了一名患有混合性软骨瘤病的10岁日本男孩及其父亲，其特征为多发外生骨疣、内生软骨瘤以及关节周围钙化或骨化，并回顾了关于这种疾病的文献。该男孩双侧髋关节出现类似佩吉特氏病的骨骺改变。这些病例是首例患有这种疾病的日本人。本文还讨论了混合性软骨瘤病的自然病史及相关病症。混合性软骨瘤病是一种遗传性骨骼发育异常，其特征为多发软骨外生骨疣、多发内生软骨瘤以及关节周围钙化或骨化。该病的遗传方式为常染色体显性遗传。1971年，马罗泰首次在两个家族的6名患者中描述了这种疾病。从那时起，已报告了22例病例。然而，迄今为止尚未有日本患者患有这种疾病的描述。我们在此报告一名患有这种罕见骨发育异常的日本男孩及其父亲。该男孩双侧股骨头出现类似佩吉特氏病的骨骺病变。
