Civan Melih, Bilgili Fuat, Kilic Ayse, Uyguner ZeyraOya, Toksoy Guven
Department of Orthopedics and Traumatology, Istanbul University, Istanbul School of Medicine, Sehremini, Fatih, Istanbul, Turkey.
Department of General Pediatrics, Istanbul University, Istanbul School of Medicine, Sehremini, Fatih, Istanbul, Turkey.
J Orthop Case Rep. 2018 Sep-Oct;8(5):36-39. doi: 10.13107/jocr.2250-0685.1200.
Fibrodysplasia ossificans progressiva previously known as myositis ossificans progressiva is a rare connective tissue disorder with autosomal dominant genetic inheritance. Patients develop heterotrophic ossification starting with the first decade of life. Diagnosis is extremely difficult until ossifications are visible.
We report a case of fibrodysplasia ossificans progressiva in a 5-year-old boy who has characteristic extracapsular joint movement limitation with bilateral great toe malformation. Before clinical suspicion and genetic confirmation, the patient had undergone various medical tests including biopsy. The patient was diagnosed by the help of characteristic great toe malformations with the help of X-ray taken after ossification signs revealed.
Fibrodysplasia ossificans progressiva is an unforgiving disease. Late diagnosis can lead the physicians to perform additional invasive test and restrains patients to avoid the exposure of more daily trauma. Although there is no treatment for the disease in current literature, we believe with the characteristic features, it could be diagnosed in short notice and managed properly.
进行性骨化性纤维发育不良，以前称为进行性骨化性肌炎，是一种罕见的结缔组织疾病，具有常染色体显性遗传。患者从生命的第一个十年开始出现异位骨化。在骨化可见之前，诊断极其困难。
我们报告一例5岁男孩的进行性骨化性纤维发育不良，其具有特征性的关节囊外关节活动受限及双侧大脚趾畸形。在临床怀疑和基因确诊之前，该患者接受了包括活检在内的各种医学检查。在骨化迹象显现后通过X线检查，借助特征性的大脚趾畸形对患者进行了诊断。
进行性骨化性纤维发育不良是一种严重的疾病。诊断延迟会导致医生进行额外的侵入性检查，并限制患者避免更多日常创伤的暴露。尽管目前文献中尚无针对该疾病的治疗方法，但我们认为凭借其特征性表现，可以在短时间内做出诊断并进行妥善管理。
