A Case of Fibrodysplasia Ossificans Progressiva in a 5-year-old Boy with all Musculoskeletal Features and Review of the Literature.


Civan M., Bilgili F. , Kılıç A. , Uyguner Z. O. , Toksoy G.

Journal of Orthopaedic Case Reports, cilt.8, no.1, ss.36-39, 2018 (Diğer Kurumların Hakemli Dergileri)

  • Cilt numarası: 8 Konu: 5
  • Basım Tarihi: 2018
  • Doi Numarası: 10.13107/jocr.2250-0685.1200
  • Dergi Adı: Journal of Orthopaedic Case Reports
  • Sayfa Sayıları: ss.36-39

Özet


Introduction:

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.

Case Report:

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.

Conclusion:

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.


KEYWORDS:

Diagnosis; Fibrodysplasia; Hallux valgus; Ossification