Acharya Sudeep, Joshi Sandhya, Chaulagain Rajib
Department of Oral and Maxillofacial Surgery, KIST Medical College and Teaching Hospital, Imadole, Lalitpur, Nepal.
Maxillofacial Unit, National Academy of Medical Science, National Trauma Center, Mahankal, Kathmandu, Nepal.
J Nepal Health Res Counc. 2018 Jul 4;16(2):245-247.
Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments, fascia and skeletal muscles leading to permanent disability. The prevalence is one in two million people. During childhood, it may be asymptomatic but in later life, progressive stiffness of major joints renders movement of the individual impossible. Currently, there is no effective treatment for this debilitating disease. Here, we present a case of 27 year old male with clinical and radiological features of fibrodysplasia ossificans progressiva.
进行性骨化性纤维发育不良是一种结缔组织分化的遗传性疾病,其特征为大脚趾先天性畸形,以及在肌腱、韧带、筋膜和骨骼肌等骨骼外组织中进行性异位骨化,导致永久性残疾。患病率为百万分之二。在儿童期可能无症状,但在晚年,主要关节的进行性僵硬会使患者无法活动。目前,这种使人衰弱的疾病尚无有效治疗方法。在此,我们报告一例27岁男性患者,具有进行性骨化性纤维发育不良的临床和影像学特征。