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Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), also known as Myositis ossificans progressiva or Munchmeyer's disease, is an extremely rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO). The disease is characterized b...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Research and Publications Office of Jimma University
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308737/ https://www.ncbi.nlm.nih.gov/pubmed/30607064 http://dx.doi.org/10.4314/ejhs.v28i4.17 |
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author | Solomon, Daniel Wakjira, Iyasu Hailu, Daniel Gorfy, Yocabel |
author_facet | Solomon, Daniel Wakjira, Iyasu Hailu, Daniel Gorfy, Yocabel |
author_sort | Solomon, Daniel |
collection | PubMed |
description | BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), also known as Myositis ossificans progressiva or Munchmeyer's disease, is an extremely rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO). The disease is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissues such as ligaments, muscles and tendons. The disease has an incidence of about 1 in 2 million population. CASE DETAILS: We report a case of a 2-year and 8-month old male child with an initial diagnosis of soft tissue sarcoma based on fine needle aspiration (FNAC) of neck swelling. CONCLUSION: Fibroplasia ossificans progressive (FOP) characteristically manifests with bilateral malformation of the great toe and progressive heterotopic ossification (HO). Clinicians and radiologists should be aware of these to prevent permanent disability. |
format | Online Article Text |
id | pubmed-6308737 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Research and Publications Office of Jimma University |
record_format | MEDLINE/PubMed |
spelling | pubmed-63087372019-01-03 Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity Solomon, Daniel Wakjira, Iyasu Hailu, Daniel Gorfy, Yocabel Ethiop J Health Sci Case Report BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), also known as Myositis ossificans progressiva or Munchmeyer's disease, is an extremely rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO). The disease is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissues such as ligaments, muscles and tendons. The disease has an incidence of about 1 in 2 million population. CASE DETAILS: We report a case of a 2-year and 8-month old male child with an initial diagnosis of soft tissue sarcoma based on fine needle aspiration (FNAC) of neck swelling. CONCLUSION: Fibroplasia ossificans progressive (FOP) characteristically manifests with bilateral malformation of the great toe and progressive heterotopic ossification (HO). Clinicians and radiologists should be aware of these to prevent permanent disability. Research and Publications Office of Jimma University 2018-07 /pmc/articles/PMC6308737/ /pubmed/30607064 http://dx.doi.org/10.4314/ejhs.v28i4.17 Text en © 2018 Daniel Solomon., et al. 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 | Case Report Solomon, Daniel Wakjira, Iyasu Hailu, Daniel Gorfy, Yocabel Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity |
title | Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity |
title_full | Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity |
title_fullStr | Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity |
title_full_unstemmed | Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity |
title_short | Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity |
title_sort | fibroplasia ossificans progressiva: a case report of a rare disease entity |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308737/ https://www.ncbi.nlm.nih.gov/pubmed/30607064 http://dx.doi.org/10.4314/ejhs.v28i4.17 |
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