Atypical Presentation of Fibrodysplasia Ossificans Progressiva: A Case Report and Review of Literature

摘要

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by widespread areas of abnormal bone formation in muscles, ligaments, tendons and joint capsules. Typically, the symptoms begin in the first decade of life with episodes of painful inflammatory soft tissue swellings. Gradually, there occurs restriction of motion at various joints, severely limiting the activities of daily living and the quality of life of such patients by the third decade of life. There is no definite cure available for the disease and the current treatment options target symptomatic and palliative management. We describe the case of a 10-year-old child who presented to our institute with a severe disability of upper limbs due to joint contractures along with several bony masses at various locations of the body but without having any prior complaints of painful soft tissue lesions or the characteristic flare-ups of the disease ever. Identification of typical soft tissue ossified masses in the specific anatomic pattern, along with the presence of short and malformed great toes helped us in reaching the diagnosis. Surgical procedures including biopsies should be strictly avoided in such patients to prevent triggering the development of more lesions, which occurred in our patient after inadvertent removal of the first swelling by an orthopaedic specialist.