Contreras-Olea Oscar, Goecke-Hochberger Carola, Rumié-Carmi Hana Karime, Lobo-Avilés Rosendo, Mellado-Sagredo Cecilia, Avila-Smirnow Daniela
Departamento de Radiología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Unidad de Endocrinología, Servicio de Pediatría, Hospital de Puerto Montt, Puerto Montt, Chile.
Rev Med Chil. 2019 Mar;147(3):384-389. doi: 10.4067/S0034-98872019000300384.
Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.
进行性骨化性纤维发育不良（FOP）或骨化性肌炎，是一种遗传性疾病，患病率为1/2000000。它由ACVR1基因的致病变异引起，特征是软组织异位骨化，始于生命的第二个十年。它与呼吸并发症导致的早期死亡有关。病情呈发作性进展，由软组织损伤引发；治疗以对症治疗为主，使用镇痛药、类固醇和双膦酸盐。我们报告一名12岁女性，患有左肾缺如、拇外翻和智力残疾，有6个月的胸椎后凸病史、胸部压痛性结节以及右肘和左膝关节僵硬。临床检查发现面部特征异常。磁共振成像显示异位骨化结节，脊柱X线摄影证实了这一结果。这些发现提示诊断为FOP。开始进行疼痛治疗，并在发作期使用泼尼松。对ACVR1基因进行分析，发现了一个致病变异p.Arg206His，从而确诊为FOP。
