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Updated: Aug 13, 2026
Direct Mouse Trauma/Burn Model of Heterotopic Ossification
Published on: August 6, 2015
[Fibrodysplasia (myositis) ossificans progressiva]
B Zeller1, J Westvik, O P Clausen
1Barneklinikken, Rikshospitalet, Oslo.
Insights
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing bone to form in muscles and connective tissues. Early diagnosis and avoiding trauma are crucial for managing this condition and preventing severe disability.
Area of Science:
- Genetics
- Orthopedics
- Rare Diseases
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant genetic disorder.
- It is characterized by congenital malformations of the great toes and thumbs.
- Progressive heterotopic ossification can lead to severe physical disability.
Observation:
- A seven-year-old boy with intellectual disability and congenital toe/thumb malformations presented with recurrent shoulder lumps.
- Initial biopsies showed edema, inflammation, and fibromyxoid proliferation.
- Subsequent biopsies revealed progressive ossification of muscle and fascia.
Findings:
- The patient's presentation and biopsy results are typical of fibrodysplasia ossificans progressiva.
- FOP can be associated with alopecia, deafness, and intellectual disability.
- The condition leads to significant physical impairment, respiratory issues, and nutritional challenges.
Implications:
- Early identification of FOP is critical for patient management.
- Avoiding exacerbating factors like biopsies, surgeries, and intramuscular injections is essential.
- There is currently no effective treatment for FOP, highlighting the need for further research and supportive care strategies.
Abstract:
A seven-year-old boy with mental retardation and congenital skeletal malformations in the thumbs and big toes developed recurrent lumps in the shoulder and interscapular region. The lumps subsided slowly but left severe stiffness in the affected areas. The first biopsy revealed oedema and a chronic inflammatory response with fibromyxoid proliferation of the soft tissue. A second biopsy revealed ossification of muscle and fascia. The patient is a typical case of fibrodysplasia ossificans progressiva, an autosomal dominant inherited disorder characterized by congenital skeletal malformations in toes and fingers and progressive ectopic ossification, often combined with alopecia, deafness and in rare cases mental retardation. The disorder leads to severe physical disability in young age and respiratory and nutritional problems. No effective treatment is known, but it is important to avoid exacerbating factors such as biopsy, operations and intramuscular injections.
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