Department of Orthodontics, School of Stomatology, Lanzhou University, Lanzhou, China.
Department of Oral and Maxillofacial Surgery, the 940th Hospital of Joint Logistics Support Force of PLA, Lanzhou, China.
Medicine (Baltimore). 2024 Sep 13;103(37):e39648. doi: 10.1097/MD.0000000000039648.
Myositis ossificans (MO) is characterized by benign heterotopic ossificans in soft tissues like muscles, which can be classified into nonhereditary MO and fibrodysplasia ossificans progressiva (FOP). Nonhereditary MO is characterized by ossification of the soft tissues after acute or repetitive trauma, burns, or surgical intervention. FOP is a rare and crippling disease characterized by congenital malformation of the big toe and heterotopic ossification in muscle. The majority of FOP's musculoskeletal traits are associated with dysregulated chondrogenesis. The diagnosis is mainly based on clinical manifestation, imaging examination, and genetic analysis. There is still no effective treatment to cure or slow its progression. The best approach remains early diagnosis, conservative drug treatment, and injury prevention to avoid local ossification.
A 34-year-old male presented at our hospital because of trismus caused by ossification of the masseter muscle. In addition, he had serious stiffness and multiple bony masses throughout the body, which led to limited movement.
Based on the clinical manifestation of movement restriction, characteristic radiographic images of ossification of soft tissues, the genetic test showing a heterozygous molecule (c.974G > C, p.G325A) of the activin A receptor type I, the patient was diagnosed as FOP complicated with localized MO in masseter after trauma and infection.
The patient underwent the surgical resection of ossification in the masseter muscle, he was instructed to insist on mouth-opening exercises and take glucocorticoids and nonsteroidal anti-inflammatory medications after surgery.
The symptoms of trismus are relieved, and eating can be basically achieved after surgery, while the symptoms of trismus recurred 2 years later.
Although FOP has unique clinical manifestations, its diagnosis may be difficult because of its rarity. Gene analysis is the main standard for diagnosis, while patients with different genotypic variations may show different clinical symptoms. Therapeutic interventions are still supportive and preventive, and surgery is not recommended except under certain circumstances.
骨化性肌炎(MO)的特征是良性异位骨化,发生于肌肉等软组织,可分为遗传性 MO 和进行性纤维发育不良性骨化(FOP)。非遗传性 MO 的特征是在急性或反复创伤、烧伤或手术干预后,软组织发生骨化。FOP 是一种罕见的致残性疾病,其特征是大脚趾先天性畸形和肌肉异位骨化。FOP 的大多数肌肉骨骼特征与软骨生成失调有关。诊断主要基于临床表现、影像学检查和基因分析。目前尚无有效的治疗方法来治愈或减缓其进展。最佳方法仍然是早期诊断、保守药物治疗和预防损伤,以避免局部骨化。
一名 34 岁男性因咀嚼肌骨化导致牙关紧闭而到我院就诊。此外,他全身多处僵硬并有多个骨性肿块,导致活动受限。
根据运动受限的临床表现、软组织异位骨化的特征性影像学图像、显示杂合分子(c.974G>C,p.G325A)的激活素 A 受体 I 型的基因检测,该患者被诊断为创伤和感染后 FOP 伴局限性咀嚼肌 MO。
患者接受了咀嚼肌骨化切除术,术后嘱其坚持张口练习,并服用糖皮质激素和非甾体抗炎药。
术后牙关紧闭症状缓解,基本可以进食,但 2 年后再次出现牙关紧闭症状。
尽管 FOP 具有独特的临床表现,但由于其罕见性,其诊断可能具有挑战性。基因分析是主要的诊断标准,而具有不同基因型变异的患者可能表现出不同的临床症状。治疗干预仍然是支持性和预防性的,除非在某些情况下,否则不建议手术。