Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.

常见的骨质疏松 ： 病例报告并进行鉴别诊断和文献复习。

• 发表时间: Feb 2021
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.3611
• PMID: 33598273
• 文章类型: Case Reports
• 作者列表: Gaudio A,Xourafa A,Rapisarda R,Gorgone C,Gnoli M,Pedrini E,Sangiorgi L,Catalano A,Zanoli L,Mattina T,Castellino P

关键词: LEMD3 gene; enostoses; osteopoikilosis; sclerosing bone dysplasia

Abstract

Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.

摘要

骨质疏松症（OP）是一种罕见的常染色体显性遗传性硬化性骨疾病，由LEMD3基因的杂合突变引起。它的特征是在海绵状区有许多局灶性板层骨致密沉积物。在这个案例报告中,我们描述了一个著名的OP病例并回顾了文献。