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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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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
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author Malik, Ipanshu
Sharma, S C
Padhiyar, Mahipal Ajitsinh
Rawal, Nitin
Mukherjee, Mayukh
author_facet Malik, Ipanshu
Sharma, S C
Padhiyar, Mahipal Ajitsinh
Rawal, Nitin
Mukherjee, Mayukh
author_sort Malik, Ipanshu
collection PubMed
description 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.
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spelling pubmed-100666672023-04-02 Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings Malik, Ipanshu Sharma, S C Padhiyar, Mahipal Ajitsinh Rawal, Nitin Mukherjee, Mayukh J Orthop Case Rep Case Report 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. Indian Orthopaedic Research Group 2022-11 2022-11 /pmc/articles/PMC10066667/ /pubmed/37013240 http://dx.doi.org/10.13107/jocr.2022.v12.i11.3394 Text en Copyright: © Indian Orthopaedic Research Group https://creativecommons.org/licenses/by-nc-sa/3.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Malik, Ipanshu
Sharma, S C
Padhiyar, Mahipal Ajitsinh
Rawal, Nitin
Mukherjee, Mayukh
Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
title Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
title_full Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
title_fullStr Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
title_full_unstemmed Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
title_short Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
title_sort fibrodysplasia ossificans progressiva: a case series with radiologic findings
topic Case Report
url 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
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