Saeed Shahzeb, Naveed Husnain, Maktabijahromi Niloufar, Mohammed Norhan, Rehman Abdur
Internal Medicine, Army Medical College, Rawalpindi, PAK.
Internal Medicine, Shifa Tameer-E-Millat University Shifa College of Medicine, Islamabad, PAK.
Cureus. 2023 Aug 10;15(8):e43309. doi: 10.7759/cureus.43309. eCollection 2023 Aug.
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP.
进行性骨化性纤维发育不良（FOP）是一种罕见的遗传性疾病，其特征是软组织逐渐发生异位骨化，由于ACVR1基因突变，导致肌肉、肌腱和韧带内出现异常骨生长。本病例报告突出了FOP的罕见情况，强调了诊断挑战以及快速识别和适当干预以减轻其衰弱影响的重要性。该报告还强调了全面遗传咨询和多学科治疗方法的必要性，涉及骨科专家、遗传学家和物理治疗师等专家，以改善FOP患者的预后和整体健康状况。
