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Pdf Fibrodysplasia Ossificans Progressiva A Case Series And Literature

Leo Migdal
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pdf fibrodysplasia ossificans progressiva a case series and literature

Accepted 2022 Mar 22; Collection date 2022 Mar. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Fibrodysplasia ossificans progressiva (FOP) is a rare disease with less than a thousand confirmed cases. It is a severely disabling genetic condition that affects soft tissues and is characterized by progressive extraskeletal heterotopic ossification and great toe deformities. The mode of FOP inheritance is autosomal dominant with no association to race, gender, or geographic distribution. While laboratory results and imaging studies support the identification of FOP, the diagnosis of this rare condition is mainly clinical.

Recently, FOP has been linked to a mutation of the ACVR1/ALK2 gene that induces osteoblast activation. We are reporting four cases of fibrodysplasia ossificans progressiva over a period of two years (2014-2016). Three out of four cases were treated conservatively. The first case was treated by excision of a bony bar, and the patient developed progressive bony formation and restriction of movement afterwards. Address of Correspondence: Dr. Nitin Rawal, Department of Orthopaedics, SGT Medical College Hospital and Research Institute, Gurugram, Haryana, India.

E-mail: nitin.nini@gmail.com Received 2022 Jul 24; Revised 2022 Aug 16; Accepted 2022 Oct; Issue date 2022 Nov. 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. 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. 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.

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Accepted 2022 Mar 22; Collection Date 2022 Mar. This Is

Accepted 2022 Mar 22; Collection date 2022 Mar. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Fibrodysplasia ossificans progressiva (FOP) is a rare disease with less than a thousand confirmed cases. It is a sev...

Recently, FOP Has Been Linked To A Mutation Of The

Recently, FOP has been linked to a mutation of the ACVR1/ALK2 gene that induces osteoblast activation. We are reporting four cases of fibrodysplasia ossificans progressiva over a period of two years (2014-2016). Three out of four cases were treated conservatively. The first case was treated by excision of a bony bar, and the patient developed progressive bony formation and restriction of movement ...

E-mail: Nitin.nini@gmail.com Received 2022 Jul 24; Revised 2022 Aug 16;

E-mail: nitin.nini@gmail.com Received 2022 Jul 24; Revised 2022 Aug 16; Accepted 2022 Oct; Issue date 2022 Nov. 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. It is an autosomal dominant g...

Clinical Assessment, Radiographic Examination, And Genetic Study Of The Activin

Clinical assessment, radiographic examination, and genetic study of the Activin receptor Type 1A gene are among the diagnostic techniques used to identify this disease. 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 ossi...