PANOSTOTIC FIBROUS DYSPLASIA - A CONGENITAL DISORDER OF BONE WITH UNUSUAL FACIAL APPEARANCE, BONE FRAGILITY, HYPERPHOSPHATASEMIA, AND HYPOPHOSPHATEMIA
PANOSTOTIC FIBROUS DYSPLASIA - A CONGENITAL DISORDER OF BONE WITH UNUSUAL FACIAL APPEARANCE, BONE FRAGILITY, HYPERPHOSPHATASEMIA, AND HYPOPHOSPHATEMIA
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DOI：
10.1002/ajmg.1320140414
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发表时间：
1983-01-01
期刊：
影响因子：
--
通讯作者：
SCRIVER, CR
中科院分区：
文献类型：
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作者：
COLE, DEC;FRASER, FC;SCRIVER, CR
我们报告一个男孩，他有不寻常的面部外观，黑色斑块（“缅因海岸”型），骨髓纤维化，复发性股骨骨折和广泛的骨纤维发育不良。生化结果包括血清碱性磷酸酶（骨同工酶）和1,25‐（OH）2维生素D升高，血清磷水平降低。尿中总羟脯氨酸、甘氨酸和γ -羧谷氨酸排泄率升高表明骨基质的周转增加。经髂骨活检显示骨髓元素缺乏，骨转换大大增加，缺乏正常的小梁组织。连续x线片显示进行性皮质变薄和骨小梁丢失。降钙素和地替膦酸钠治疗对进行性骨病无持久效果。对于这种情况，建议使用“全肠性纤维发育不良”一词。
We report a boy with unusual facial appearance, melanotic patches (“coast‐of‐Maine” type), myelofibrosis, recurrent femoral fractures, and widespread fibrous dysplasia of bone. Biochemical findings included raised serum alkaline phosphatase (bone isozyme) and 1,25‐(OH)2vitamin D, and low serum phosphorus levels. Elevated urinary excretion rates of total hydroxyproline, glycylproline, and γ‐carboxyglutamic acid indicated increased turnover of bone matrix. Transiliac bone biopsy showed a dearth of marrow elements, greatly increased bone turnover, and absence of normal trabecular organization. Serial radiographs showed progressive cortical thinning and loss of bony trabeculae. Calcitonin and etidronate treatments had no lasting effect on the progressive bone disease. The term “panostotic fibrous dysplasia” is suggested for this condition.