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Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings

INTRODUCTION: It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP...

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Detalles Bibliográficos
Autores principales: Malik, Ipanshu, Sharma, S C, Padhiyar, Mahipal Ajitsinh, Rawal, Nitin, Mukherjee, Mayukh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Indian Orthopaedic Research Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10066667/
https://www.ncbi.nlm.nih.gov/pubmed/37013240
http://dx.doi.org/10.13107/jocr.2022.v12.i11.3394
Descripción
Sumario:INTRODUCTION: It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP) can be delayed or misdiagnosed. Clinical assessment, radiographic examination, and genetic study of the Activin receptor Type 1A gene are among the diagnostic techniques used to identify this disease. CASE REPORT: We are presenting three female cases having FOP in this article of different age groups. It presented with multiple non-tender lumps on patients’ paravertebral region along with bilateral hallux valgus. The radiograph revealed ossifications of soft tissue involving spine and neck. The patient was given a conservative treatment approach and told what could be done to prevent flare-ups. CONCLUSION: Being a rare, progressive, and often misdiagnosed condition, early diagnosis is advocated. Long-term physiotherapy and muscle trauma prevention can delay it as much as possible to prevent future disabilities.