Nishimura G, Haga N, Ikeuchi S, Yamaguchi T, Aoki K, Yamato M
Department of Radiology, Dokkyo University School of Medicine, Tochigi-ken, Japan.
Skeletal Radiol. 1996 Nov;25(8):717-22. doi: 10.1007/s002560050167.
To report examples of disorders characterized by bone fragility, calvarial and/or gnathic fibro-osseous lesions, and metadiaphyseal undermodeling of the tubular bones.
The clinical, radiological, and pathological features of two patients are described and the literature reviewed.
The patients comprised a 10-year-old boy and a 48-year-old woman. The former exhibited multiple fractures starting in early childhood and calvarial masses which developed in late childhood; the latter showed a mandibular mass.
Calvarial doughnut lesions, osteopenia with coarse bony trabeculae, and undermodeling of the lower limbs were radiologically demonstrated in the first patient, while multiple sclerotic foci in the maxilla and mandible, spontaneous bowing of the right femur, and minimal undermodeling of the tibiae were demonstrated in the second. Bone biopsy of the iliac crest in the first patient revealed histologically normal bony trabeculae. Bone histomorphometry suggested an increased osteoid surface. Osteoid volume was also slightly increased. The pathological findings of the mass in the jaw in the latter patient were consistent with it being a fibro-osseous lesion. The literature review revealed several patients whose features overlapped with those of our patients.
These patients may represent a group of fragile bone syndromes which differ from osteogenesis imperfecta.
报告以骨脆性增加、颅骨和/或颌骨纤维性骨病变以及管状骨干骺端塑形不足为特征的疾病实例。
描述两名患者的临床、放射学和病理学特征，并对文献进行综述。
患者包括一名10岁男孩和一名48岁女性。前者自幼儿期起就出现多处骨折，儿童晚期出现颅骨肿块；后者表现为下颌肿块。
第一名患者经放射学检查显示有颅骨环形病变、骨质减少伴粗大骨小梁以及下肢塑形不足，而第二名患者显示上颌骨和下颌骨有多个硬化灶、右股骨自发性弯曲以及胫骨轻度塑形不足。第一名患者的髂嵴骨活检显示组织学上骨小梁正常。骨组织形态计量学提示类骨质表面增加。类骨质体积也略有增加。后者患者颌部肿块的病理结果与其为纤维性骨病变一致。文献综述显示有几名患者的特征与我们的患者重叠。
这些患者可能代表一组与成骨不全不同的脆性骨综合征。
