Fibrodysplasia ossificans progressiva. Report of one case

Oscar Contreras-Olea; Carola Goecke-Hochberger; Hana Karime Rumié-Carmi; Rosendo Lobo-Avilés; Cecilia Mellado-Sagredo; daniela avila-smirnow

Keywords: genetic diseases, inborn, solitary kidney, Leukomalacia, Periventricular, Myositis Ossificans

Abstract

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of I 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.

Más información

Título según WOS: Fibrodysplasia ossificans progressiva. Report of one case
Título según SCOPUS: Fibrodysplasia ossificans progressiva. Report of one case [Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico]
Título según SCIELO: Fibrodisplasia osificante progresiva plus por una variante patog�nica del gen ACVR1: Caso cl�nico
Título de la Revista: REVISTA MEDICA DE CHILE
Volumen: 147
Número: 3
Editorial: Sociedad Médica de Santiago
Fecha de publicación: 2019
Página de inicio: 384
Página final: 389
Idioma: Spanish
DOI:

10.4067/S0034-98872019000300384

Notas: ISI, SCIELO, SCOPUS