Early stage fibrodysplasia ossificans progressiva: A case report

Achmad Fauzi Kamal, Dina Aprilya

Research output: Contribution to journalArticle

Abstract

Fibrodysplasia ossificans progressiva is a very rare autosomal dominant genetic connective tissue disease with a progressive ectopic ossification of muscle (intramuscular) or perimuscular connective tissue such as tendons or joint capsules. The osseous masses produced will form bridges that abnormally connect sections of the skeleton, causing disfiguration and normal motor function inhibition. We reported a 5-year-old girl with multiple hard nodules on the back region which initially present as a painful soft mass on the posterior neck region. As the pain subsided, the mass hardened and also appeared in other parts of her back. We decided not to do a biopsy or excisional surgery to prevent flaring up of the disease. Early diagnosis prevents catastrophic diagnostic and treatment procedures. The progressive nature of this disease is difficult to stop but we should delay it as much as possible by preventing muscle trauma, giving disease modifying agent and long-term physiotherapy to counter further disabilities which will eventually develop.

Original languageEnglish
Pages (from-to)167-173
Number of pages7
JournalRadiology Case Reports
Volume15
Issue number3
DOIs
Publication statusPublished - Mar 2020

Keywords

  • Early diagnosis
  • Ectopic ossification
  • Fibrodysplasia ossificans progressiva
  • Painful soft mass
  • Preventing muscle trauma

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