Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early...

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Autores principales:	Contreras-Olea,Oscar, Goecke-Hochberger,Carola, Rumié-Carmi,Hana Karime, Lobo-Avilés,Rosendo, Mellado-Sagredo,Cecilia, Avila-Smirnow,Daniela
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2019
Materias:	Leukomalacia, Periventricular Myositis Ossificans Solitary Kidney Genetic Diseases, Inborn
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000300384
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spelling	oai:scielo:S0034-988720190003003842019-07-17Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínicoContreras-Olea,OscarGoecke-Hochberger,CarolaRumié-Carmi,Hana KarimeLobo-Avilés,RosendoMellado-Sagredo,CeciliaAvila-Smirnow,Daniela Leukomalacia, Periventricular Myositis Ossificans Solitary Kidney Genetic Diseases, Inborn Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.147 n.3 20192019-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000300384es10.4067/S0034-98872019000300384
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Leukomalacia, Periventricular Myositis Ossificans Solitary Kidney Genetic Diseases, Inborn
spellingShingle	Leukomalacia, Periventricular Myositis Ossificans Solitary Kidney Genetic Diseases, Inborn Contreras-Olea,Oscar Goecke-Hochberger,Carola Rumié-Carmi,Hana Karime Lobo-Avilés,Rosendo Mellado-Sagredo,Cecilia Avila-Smirnow,Daniela Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
description	Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.
author	Contreras-Olea,Oscar Goecke-Hochberger,Carola Rumié-Carmi,Hana Karime Lobo-Avilés,Rosendo Mellado-Sagredo,Cecilia Avila-Smirnow,Daniela
author_facet	Contreras-Olea,Oscar Goecke-Hochberger,Carola Rumié-Carmi,Hana Karime Lobo-Avilés,Rosendo Mellado-Sagredo,Cecilia Avila-Smirnow,Daniela
author_sort	Contreras-Olea,Oscar
title	Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
title_short	Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
title_full	Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
title_fullStr	Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
title_full_unstemmed	Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
title_sort	fibrodisplasia osificante progresiva plus por una variante patogénica del gen acvr1: caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2019
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000300384
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Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico

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