Traore Moussa, Traore Thomas Jeannette, Guinto Cheick Oumar, Kane Mamady, Traore Siona
Pharmacy and Dentistry, Faculty of Medicine, BP 1805 Bamako, Mali, West Africa.
Clin Rheumatol. 2004 Dec;23(6):527-9. doi: 10.1007/s10067-003-0808-0.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare hereditary connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of striated muscles and soft tissues. We report a case of FOP in a Malian boy and review the clinical and radiographic manifestations of this disorder. The body TDM showed ossifications and calcifications in the muscles of the large rhomboid, the erector muscles of the rachis and the trapezius muscles. Radiography of the dorsolumbar rachis showed paravertebral soft tissue calcification adjacent to intact lumbar vertebrae. The diagnosis is based on clinical and radiological findings and demonstration of skeletal malformations. The differential diagnosis of this rare condition from other muscle and joint disease is discussed. There is no effective prevention or treatment. There is a need for a wider knowledge of this condition.
进行性骨化性纤维发育不良(FOP)是一种极其罕见的遗传性结缔组织疾病,其特征为大脚趾先天性畸形以及横纹肌和软组织进行性异位骨化。我们报告了一例马里男孩的FOP病例,并回顾了该疾病的临床和影像学表现。全身TDM显示大菱形肌、脊柱竖脊肌和斜方肌出现骨化和钙化。胸腰椎X线检查显示完整腰椎相邻的椎旁软组织钙化。诊断基于临床和影像学检查结果以及骨骼畸形的表现。讨论了这种罕见疾病与其他肌肉和关节疾病的鉴别诊断。目前尚无有效的预防或治疗方法。需要更广泛地了解这种疾病。