Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico / Fibrodysplasia ossificans progressiva: report of one case
Rev. méd. Chile
;
147(3): 384-389, mar. 2019. tab, graf
Artigo
em Espanhol
| LILACS
| ID: biblio-1004361
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Miosite Ossificante
Tipo de estudo:
Fatores de risco
Limite:
Criança
/
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2019
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Complejo Asistencial Dr. Sótero del Río/CL
/
Hospital de Puerto Montt/CL
/
Pontificia Universidad Católica de Chile/CL
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