Pacifici R, Murphy W A, Teitelbaum S L, Whyte M P
Calcif Tissue Int. 1986 Mar;38(3):175-85. doi: 10.1007/BF02556878.
We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy, the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis, melorheostosis) in a single subject. Review of radiographs from 1942, when he was reported to have osteopetrosis, demonstrated diffuse osteosclerosis, osteopathia striata, osteopoikilosis, and focal cortical hyperostosis. Forty-two years later, there had been significant progression and evolution of his skeletal disease with the appearance of new areas of osteopathia striata and osteopoikilosis and a generalized increase in skeletal mass as assessed radiographically. Presence of subperiosteal bone apposition on biopsy of the iliac crest together with chronic mild hypocalcemia, secondary hyperparathyroidism, and hypophosphatemia suggested that enhanced bone formation, perhaps with defective skeletal resorption, is a fundamental abnormality which accounts for the increased bone mass of this patient.
我们对一名52岁患有混合性硬化性骨营养不良的男性患者进行了详细的代谢研究，并进行了42年的放射学随访。混合性硬化性骨营养不良是指在单个个体中罕见地出现两种或更多种不同类型的硬化性骨发育异常（例如，条纹状骨病、骨斑点症、蜡油样骨病）。回顾1942年的X线片（当时他被诊断为骨质石化症），显示有弥漫性骨硬化、条纹状骨病、骨斑点症和局灶性皮质骨增生。42年后，其骨骼疾病有了显著进展和演变，出现了新的条纹状骨病和骨斑点症区域，并且通过放射学评估显示骨骼质量普遍增加。髂嵴活检显示有骨膜下骨附着，同时伴有慢性轻度低钙血症、继发性甲状旁腺功能亢进和低磷血症，提示骨形成增强，可能伴有骨骼吸收缺陷，这是导致该患者骨量增加的根本异常原因。
