Fibrodysplasia ossificans progressiva: case report

• Autor(a) principal: Gonçalves, Andre Leite [UNIFESP]
• Data de Publicação: 2005
• Outros Autores: Masruha, Marcelo Rodrigues [UNIFESP], Campos, Carmelinda Correia De [UNIFESP], Delai, Patricia Longo Ribeiro [UNIFESP], Vilanova, Luiz Celso Pereira [UNIFESP]
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0004-282X2005000600032; http://repositorio.unifesp.br/handle/11600/2783
• topic: fibrodysplasia ossificans progressiva; myositis ossificans progressiva; myositis ossificans; heterotopic ossification; fibrodisplasia ossificante progressiva; miosite ossificante progressiva; miosite ossificante; ossificação heterotópica

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. We report on a nine-year-old girl with clinical and radiological features of FOP. She was born with bilateral hallux valgus and at the age of nine presented an indurate mass in the left cervical region that was painful. A significant decreased range of motion in all levels of the spine and shoulder girdle was found. The radiographs showed heterotopic ossification in the thoracic region. The patient had two outbreaks of the disease (flare-ups) that were treated with prednisone 2 mg/kg/day for four days. After the flare-ups, she had a continuous therapy with a Cox-2 inhibitor (25 mg/day) and a leukotriene inhibitor, montelukast (10 mg/day).