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特发性多中心骨质溶解症

Idiopathic multicentric osteolysis.

作者信息

Tyler T, Rosenbaum H D

出版信息

AJR Am J Roentgenol. 1976 Jan;126(1):23-31. doi: 10.2214/ajr.126.1.23.

DOI:10.2214/ajr.126.1.23
PMID:175680
Abstract

A 59 year old while female with striking carpal and tarsal osteolysis is reported. The process primarily involves the carpals and tarsals but includes other sites. The pertinent literature is reviewed and a simplified classification of idiopathic multicentric osteolysis is presented. Idiopathic multicentric osteolysis may be sporadic but can demonstrate either dominant or recessive inheritance. There may or may not be associated nephropathy. The underlying mechanism appears similar in all variations of this condition. Gorham's disease, the Winchester syndrome, and other osteolytic conditions which may predominantly affect the tarsal and carpal bones most likely are totally different processes, unrelated to idiopathic multicentric osteolysis.

摘要

本文报道了一名59岁患有明显腕骨和跗骨骨质溶解症的白人女性。该病症主要累及腕骨和跗骨,但也包括其他部位。本文回顾了相关文献,并提出了特发性多中心骨质溶解症的简化分类。特发性多中心骨质溶解症可能是散发性的,但也可表现为显性或隐性遗传。可能伴有或不伴有肾病。在该病症的所有变体中,其潜在机制似乎相似。戈勒姆病、温彻斯特综合征以及其他可能主要影响跗骨和腕骨的骨质溶解症,很可能是完全不同的病症过程,与特发性多中心骨质溶解症无关。

相似文献

1
Idiopathic multicentric osteolysis.特发性多中心骨质溶解症
AJR Am J Roentgenol. 1976 Jan;126(1):23-31. doi: 10.2214/ajr.126.1.23.
2
Nephropathy of idiopathic multicentric osteolysis.特发性多中心骨质溶解症肾病
Nephron. 1980;25(3):134-8. doi: 10.1159/000181769.
3
Essential osteolysis of carpal and tarsal bones.腕骨和跗骨的原发性骨质溶解
Br J Radiol. 1978 Jul;51(607):539-41. doi: 10.1259/0007-1285-51-607-539.
4
Carpal and tarsal osteolysis. A case report and review of the literature.腕骨和跗骨骨质溶解。病例报告及文献综述。
J Bone Joint Surg Am. 1975 Jul;57(5):681-6.
5
Carpo-tarsal osteolysis. Case report and review of the literature.腕跗骨骨质溶解。病例报告及文献综述。
Genet Couns. 1993;4(1):25-36.
6
Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.特发性多中心骨质溶解症:两例新病例报告及文献综述
Am J Med Genet. 1988 Apr;29(4):929-36. doi: 10.1002/ajmg.1320290425.
7
Idiopathic multicentric osteolysis.特发性多中心骨质溶解症
J Belge Radiol. 1994 Oct;77(5):220.
8
Primary idiopathic osteolysis: description of a family.原发性特发性骨质溶解症:一个家族的描述。
Ann Rheum Dis. 1992 Sep;51(9):1074-8. doi: 10.1136/ard.51.9.1074.
9
Carpal and tarsal agenesis with features of essential and hereditary osteolysis.伴有原发性和遗传性骨质溶解特征的腕骨和跗骨发育不全
J Bone Joint Surg Am. 1972 Jul;54(5):1099-104.
10
Gorham's disease: a rare case of multicentric localization.戈勒姆病:多中心定位的罕见病例。
Chir Organi Mov. 2004 Oct-Dec;89(4):339-45.

引用本文的文献

1
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.多中心腕跗骨溶解综合征患者的三联体临床外显子组测序:巴尔干地区首例病例报告
Front Genet. 2018 Apr 5;9:113. doi: 10.3389/fgene.2018.00113. eCollection 2018.
2
Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients.多中心性腕跗骨溶解综合征:3例患者的长期随访
Skeletal Radiol. 2018 Jul;47(7):1015-1019. doi: 10.1007/s00256-018-2874-z. Epub 2018 Feb 3.
3
A Rare Case Report of Extensive Polyostotic Gorham's Disappearing Bone Disease Involving the Upper Extremity.
上肢广泛性多骨型戈谢病性骨质消失症1例罕见病例报告
Case Rep Orthop. 2011;2011:486756. doi: 10.1155/2011/486756. Epub 2011 Dec 10.
4
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.多中心性掌跖骨溶解症是由 MAFB 氨基末端转录激活结构域内的突变簇引起的。
Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1.
5
Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.基质金属蛋白酶-2(MMP-2)的缺失会扰乱骨骼和颅面发育,并导致骨矿化减少、关节侵蚀以及成骨细胞和破骨细胞生长缺陷。
Hum Mol Genet. 2007 May 1;16(9):1113-23. doi: 10.1093/hmg/ddm060. Epub 2007 Mar 30.
6
Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.遗传性多中心骨质溶解症,腕跗骨受累,酷似幼年特发性关节炎。
Eur J Pediatr. 2004 Oct;163(10):612-8. doi: 10.1007/s00431-004-1502-1.
7
Acro-osteolysis occurring in a patient with idiopathic multicentric osteolysis.一名患有特发性多中心骨质溶解症的患者出现了肢端骨质溶解。
Skeletal Radiol. 1980 Feb;5(1):29-34. doi: 10.1007/BF00347095.
8
Carpal and tarsal osteolysis.腕骨和跗骨骨质溶解
Pediatr Radiol. 1983;13(4):219-26. doi: 10.1007/BF00973160.
9
Case report 401: Idiopathic carpal/tarsal osteolysis (ICTO) associated with nephropathy.病例报告401:特发性腕骨/跗骨骨质溶解症(ICTO)合并肾病。
Skeletal Radiol. 1986;15(8):665-71. doi: 10.1007/BF00349866.
10
Multicentric osteolysis: report of the second successful renal transplant.多中心性骨质溶解:第二次肾移植成功报告
Pediatr Nephrol. 1987 Jan;1(1):42-5. doi: 10.1007/BF00866883.