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.
Subject(s)
Humans , Female , Child , Myositis Ossificans/diagnostic imaging , Prednisone/therapeutic use , Magnetic Resonance Imaging , Chile , Ossification, Heterotopic/genetics , Ossification, Heterotopic/drug therapy , Ossification, Heterotopic/diagnostic imaging , Anti-Inflammatory Agents/therapeutic use , Myositis Ossificans/genetics , Myositis Ossificans/drug therapyABSTRACT
A fibrodisplasia ossificante progressiva (F.O.P.) é uma doença rara, de caráter genético e herança autossômica dominante, que se caracteriza por ossificaçäo nos músculos voluntários, fáscias, ligamentos, tendöes e malformaçöes dos dedos dos pés e das mäos, Echeverria & Castro (l98l). Os autores relatam um caso de F.P.O., encaminhado ao serviço de Genética do Hospital Universitário Lauro Wanderley - UFPB. Seräo enfatizados os aspectos clínicos e os recursos fisioterápicos para melhorar o estado geral deste pasciente. O conhecimento mais aprofundado desta Síndrome, torna-se importante para um melhor esclarecimento dos aspectos terapêuticos e prognósticos, evitando-se medidas que exacerbam o processo de ossificaçäo