Melorheostosis是一种罕见的骨发育不良,涉及皮质骨过度生长,影响阑尾骨骼。出现疼痛的患者,畸形,挛缩,活动限制范围,和四肢肿胀。它在儿童和成人中都有描述。我们最近发现了melorheostosis患者MAP2K1功能获得突变的体细胞镶嵌。尽管在基因理解方面取得了这些进步,目前尚无有效的治疗方法或临床指南来帮助临床医师和患者进行疾病管理.在一项更好地表征疾病的临床和遗传方面的研究中,我们招募了30名在18F-NaF正电子发射断层扫描(PET)/CT上具有放射学表现的melorheostosis和相应的摄取增加的成年人。患者接受了体检,影像学检查,和实验室评估。所有患者均接受神经传导研究和神经的超声成像检查,以了解神经的解剖分布。我们发现大约77%的患者存在感觉缺陷,有5例患者局灶性神经卡压的证据。所有患者均报告疼痛;53%的患者在受影响的骨骼上有皮肤变化。没有发现明显的实验室异常。我们的研究结果表明,患有melorheostosis的患者可能会受益于多学科的皮肤科医生团队,神经学家,骨科医生,疼痛和姑息治疗专家,以及物理医学和康复专家。未来的研究重点是疾病管理。©2019作者JBMRPlus由Wiley期刊出版,公司代表美国骨骼和矿物研究学会。
Melorheostosis is a rare dysostosis involving cortical bone overgrowth that affects the appendicular skeleton. Patients present with pain, deformities, contractures, range of motion limitation(s), and limb swelling. It has been described in children as well as adults. We recently identified somatic mosaicism for gain-of-function mutations in MAP2K1 in patients with melorheostosis. Despite these advances in genetic understanding, there are no effective therapies or clinical guidelines to help clinicians and patients in disease management. In a
study to better characterize the clinical and genetic aspects of the disease, we recruited 30 adults with a radiographic appearance of melorheostosis and corresponding increased uptake on 18F-NaF positron emission tomography (PET)/CT. Patients underwent physical exam, imaging studies, and laboratory assessment. All patients underwent nerve conduction studies and ultrasound imaging of the nerve in the anatomic distribution of melorheostosis. We found sensory deficits in approximately 77% of patients, with evidence of focal nerve entrapment in five patients. All patients reported pain; 53% of patients had changes in skin overlying the affected bone. No significant laboratory abnormalities were noted. Our findings suggest that patients with melorheostosis may benefit from a multidisciplinary team of dermatologists, neurologists, orthopedic surgeons, pain and palliative care specialists, and physical medicine and rehabilitation specialists. Future studies focused on disease management are needed. © 2019 The Authors. JBMR Plus Published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.