Elias A N, Pinals R S, Anderson H C, Gould L V, Streeten D H
Am J Med. 1978 Oct;65(4):627-36. doi: 10.1016/0002-9343(78)90851-3.
A mother and son with acro-osteolysis (Hajdu-Cheney syndrome) are described. In addition to osteolysis of the distal phalanges, these patients have a generalized osseous dysplasia with osteoporosis, premature loss of teeth, short stature and a distinctive facial appearance. In one of the cases an enlarged sella turcica was associated with no abnormality of endocrine function. A biopsy specimen taken from an area of active osteolysis in a phalanx was studied by light and electron microscopy. There was active replacement of central medullary bone by a fibrous and angiomatous process characterized by the presence of small, thick-walled vessels and an unusual number of interspersed nerve fibers and mast cells. A neurovascular dysfunction with local release of osteolytic mediators may be involved in the pathogenesis of the disorder, but the nature of the osteolytic factor is unknown.
本文描述了一对患有肢端骨质溶解症（哈伊杜－切尼综合征）的母子。除了远端指骨骨质溶解外，这些患者还患有全身性骨发育异常，伴有骨质疏松、牙齿过早脱落、身材矮小以及独特的面部外观。其中一例患者蝶鞍增大，但内分泌功能无异常。对取自指骨活跃骨质溶解区域的活检标本进行了光镜和电镜研究。中央髓质骨被纤维和血管瘤样组织积极替代，其特征为存在小的厚壁血管以及数量异常的散在神经纤维和肥大细胞。神经血管功能障碍伴溶骨介质局部释放可能参与了该疾病的发病机制，但溶骨因子的性质尚不清楚。
