Cargando…
An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual o...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493469/ https://www.ncbi.nlm.nih.gov/pubmed/37700978 http://dx.doi.org/10.7759/cureus.43309 |
_version_ | 1785104482145665024 |
---|---|
author | Saeed, Shahzeb Naveed, Husnain Maktabijahromi, Niloufar Mohammed, Norhan Rehman, Abdur |
author_facet | Saeed, Shahzeb Naveed, Husnain Maktabijahromi, Niloufar Mohammed, Norhan Rehman, Abdur |
author_sort | Saeed, Shahzeb |
collection | PubMed |
description | Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP. |
format | Online Article Text |
id | pubmed-10493469 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-104934692023-09-12 An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report Saeed, Shahzeb Naveed, Husnain Maktabijahromi, Niloufar Mohammed, Norhan Rehman, Abdur Cureus Genetics Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP. Cureus 2023-08-10 /pmc/articles/PMC10493469/ /pubmed/37700978 http://dx.doi.org/10.7759/cureus.43309 Text en Copyright © 2023, Saeed et al. https://creativecommons.org/licenses/by/3.0/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. |
spellingShingle | Genetics Saeed, Shahzeb Naveed, Husnain Maktabijahromi, Niloufar Mohammed, Norhan Rehman, Abdur An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report |
title | An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report |
title_full | An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report |
title_fullStr | An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report |
title_full_unstemmed | An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report |
title_short | An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report |
title_sort | atypical presentation of fibrodysplasia ossificans progressiva and the imperative for multidisciplinary care: a case report |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493469/ https://www.ncbi.nlm.nih.gov/pubmed/37700978 http://dx.doi.org/10.7759/cureus.43309 |
work_keys_str_mv | AT saeedshahzeb anatypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT naveedhusnain anatypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT maktabijahrominiloufar anatypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT mohammednorhan anatypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT rehmanabdur anatypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT saeedshahzeb atypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT naveedhusnain atypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT maktabijahrominiloufar atypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT mohammednorhan atypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport AT rehmanabdur atypicalpresentationoffibrodysplasiaossificansprogressivaandtheimperativeformultidisciplinarycareacasereport |