Fibrodysplasia Ossificans Progressiva: Difficulty in Diagnosis and Management A case report and literature review.

INTRODUCTION

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant genetic disorder and characterized by postnatal progressive heterotopic ossification of the connective tissue. There are difficulties in diagnosing FOP, thus delayed or misdiagnosis and mismanagement is common. 3D printers have now become widely available and inexpensive, and can be used to rapidly produce life-size models based on CT scans of an individual patient. The availability of patient specific, accurate and detailed models of complex acetabular fractures can aid planning of surgical management on a patient specific basis.

CASE REPORT

We present the diagnosis and surgical management of a 9-year old Indonesian girl with FOP. She presented with extensive involvement of cervical spine and both shoulders. Total excision of occipito-cervico-lumbar and paravertebral ossification and also exostoses at bilateral shoulder was done. At three years follow up, she had local recurrence with similar range of movement of the shoulder and cervical spine.

CONCLUSION

FOP is an extremely rare case. It is difficult to diagnose and manage FOP, therefore delayed or misdiagnosis and also inappropriate management is common.