PDF(Pubmed)
Abstract：
Osteopoikilosis (OP) is a rare genetic bone dysplasia that causes dense patches in the trabecular bone and occurs in one in 50,000 people. The exact cause is unknown, but it could be due to mutations in the LEM domain-containing gene 3. Two cases were discovered incidentally in a clinic. The first case involved the mother, a 35-year-old woman with type 2 diabetes and dyslipidemia who presented with left ankle and right forearm pain after falling downstairs. Physical examination revealed mild swelling and tenderness at the left ankle, and X-ray examination revealed multiple small sclerotic lesions. The patient was diagnosed with OP. Analgesics, ankle support, and follow-up care were provided. The second case involved the son, a 14-year-old boy who had occasional pain in his right foot. A physical examination was normal. An X-ray of the right foot showed multiple homogeneous sclerotic lesions. He was diagnosed with familial OP and given analgesics for his pain.
摘要：
骨质疏松症（OP）是一种罕见的遗传性骨发育不良，可在小梁骨中引起致密斑块，并发生在50,000人中。确切原因不明,但这可能是由于含有LEM结构域的基因3的突变。在诊所偶然发现了两个病例。第一个案件涉及母亲，一名患有2型糖尿病和血脂异常的35岁女性，在下楼后出现左脚踝和右前臂疼痛。体格检查显示左脚踝轻度肿胀和压痛，X线检查发现多发性小硬化病变。患者被诊断为OP。镇痛药,脚踝支撑,并提供后续护理。第二起案件涉及儿子，一个14岁的男孩，右脚偶尔疼痛。体检正常。右脚的X线检查显示多个均质硬化病变。他被诊断为家族性OP，并因疼痛给予镇痛药。
