[Fibrodysplasia ossificans progressiva. Report of one case]. / Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico.
Rev Med Chil
; 147(3): 384-389, 2019 Mar.
Article
em Es
| MEDLINE
| ID: mdl-31344178
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:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Miosite Ossificante
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev Med Chil
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile