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进行性骨化性纤维发育不良或蒙克迈耶病:一例罕见病例报告。

Fibrodysplasia ossificans progressiva or Munchmeyer's disease: A rare case report.

作者信息

Bhansali Sonal Priya, Tiwari Anjali Dave, Mittal Sankalp, Pareek Sitaram, Nasir Iram

机构信息

Department of Oral and Maxillofacial Surgery, RUHS College of Dental Sciences, Jaipur, Rajasthan, India.

出版信息

Natl J Maxillofac Surg. 2021 Jan-Apr;12(1):120-123. doi: 10.4103/njms.NJMS_52_19. Epub 2021 Mar 16.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease. It is characterized by widespread soft tissue ossification and congenital stigmata of the extremities, affecting all ethnic backgrounds. The worldwide reported prevalence is approximately 1/2,000,000. Based on history and clinicoradiological findings, FOP should be diagnosed as early as possible and noninvasively. The hallmark of diagnosis of FOP is bilateral great toe anomaly present from birth. Misdiagnosis may lead to inadvertent managements, such as manipulations, biopsies, and surgery. Surgery, till now, does not seem to have any role in the management of this condition and may lead to further trauma and disease progression. FOP may be precipitated due to trauma to muscle. In masticatory muscle, it mainly affects masseter muscle and presents with symptom of trismus. Herein, we present a case of FOP which presented to us with trismus after wooden thorn injury and immobility of the left leg. This article also emphasize on diagnosis, precaution, and treatment of disease.

摘要

进行性骨化性纤维发育不良(FOP)是一种罕见的常染色体显性疾病。其特征为广泛的软组织骨化和四肢先天性畸形,影响所有种族背景。全球报告的患病率约为1/2,000,000。基于病史和临床放射学检查结果,应尽早且无创地诊断FOP。FOP诊断的标志是出生时即存在双侧大脚趾异常。误诊可能导致不当处理,如手法操作、活检和手术。迄今为止,手术在这种疾病的治疗中似乎没有任何作用,且可能导致进一步创伤和疾病进展。FOP可能因肌肉创伤而诱发。在咀嚼肌中,它主要影响咬肌,并表现为牙关紧闭症状。在此,我们报告一例FOP病例,该病例在被木刺刺伤后出现牙关紧闭和左腿活动障碍。本文还强调了该疾病的诊断、预防和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b70b/8191566/978bb6d29abf/NJMS-12-120-g001.jpg

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