Fibrodysplasia Ossificans Progressiva: what have we achieved and where are we now? follow-up to the 2015 Lorentz Workshop

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics

Fibrodysplasia ossificans progressiva: case report Fibrodisplasia ossificante progressiva: relato de caso

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).<br>A fibrodisplasia ossificante progressiva (FOP) é doença rara, autossômica dominante, caracterizada por ossificação heterotópica progressiva pós-natal do tecido conjuntivo e malformação congênita dos háluces. Relatamos o caso de menina de nove anos com o quadro clínico-radiológico típico de FOP, nascida com hálux valgo bilateral e que aos 9 anos de idade apresentou massa dolorosa, de consistência endurecida, sem sinais inflamatórios, situada na região cervical. Adicionalmente, era possível observar diminuição importante da movimentação em todos os níveis da coluna vertebral e da cintura escapular. A avaliação radiológica revelou a presença de ossificações heterotópicas na região torácica e malformação bilateral dos háluces. A paciente teve outros dois surtos da doença, que foram tratados com corticosteróide oral por quatro dias, (2 mg/kg/dia) seguido por tratamento prolongado com inibidores da Cox-2 (25 mg/dia) e com inibidor de leucotrienos (10 mg/dia)

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

none35siFibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics.opende Ruiter R.D.; Smilde B.J.; Pals G.; Bravenboer N.; Knaus P.; Schoenmaker T.; Botman E.; Sanchez-Duffhues G.; Pacifici M.; Pignolo R.J.; Shore E.M.; van Egmond M.; Van Oosterwyck H.; Kaplan F.S.; Hsiao E.C.; Yu P.B.; Bocciardi R.; De Cunto C.L.; Longo Ribeiro Delai P.; de Vries T.J.; Hilderbrandt S.; Jaspers R.T.; Keen R.; Koolwijk P.; Morhart R.; Netelenbos J.C.; Rustemeyer T.; Scott C.; Stockklausner C.; ten Dijke P.; Triffit J.; Ventura F.; Ravazzolo R.; Micha D.; Eekhoff E.M.W.de Ruiter, R. D.; Smilde, B. J.; Pals, G.; Bravenboer, N.; Knaus, P.; Schoenmaker, T.; Botman, E.; Sanchez-Duffhues, G.; Pacifici, M.; Pignolo, R. J.; Shore, E. M.; van Egmond, M.; Van Oosterwyck, H.; Kaplan, F. S.; Hsiao, E. C.; Yu, P. B.; Bocciardi, R.; De Cunto, C. L.; Longo Ribeiro Delai, P.; de Vries, T. J.; Hilderbrandt, S.; Jaspers, R. T.; Keen, R.; Koolwijk, P.; Morhart, R.; Netelenbos, J. C.; Rustemeyer, T.; Scott, C.; Stockklausner, C.; ten Dijke, P.; Triffit, J.; Ventura, F.; Ravazzolo, R.; Micha, D.; Eekhoff, E. M. W