Cureus · 2022
Fibrodysplasia Ossificans Progressiva: A Report of Four Cases.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Elamin Mohamed, Almutasim Ibrahim Ashraf, Omer Abdalla
Аннотация
Fibrodysplasia ossificans progressiva (FOP) is a rare disease with less than a thousand confirmed cases. It is a severely disabling genetic condition that affects soft tissues and is characterized by progressive extraskeletal heterotopic ossification and great toe deformities. The mode of FOP inheritance is autosomal dominant with no association to race, gender, or geographic distribution. While laboratory results and imaging studies support the identification of FOP, the diagnosis of this rare condition is mainly clinical. Recently, FOP has been linked to a mutation of the ACVR1/ALK2 gene that induces osteoblast activation. We are reporting four cases of fibrodysplasia ossificans progressiva over a period of two years (2014-2016). Three out of four cases were treated conservatively. The first case was treated by excision of a bony bar, and the patient developed progressive bony formation and restriction of movement afterwards. Almost always, FOP needs to be treated conservatively with non-steroidal anti-inflammatory drugs (NSAIDs) and gentle physiotherapy. Aside from anesthetic complications, surgical interventions provoke more bone formation, hence the recurrent joint restriction. Therefore, surgery should only be reserved for severely disabling deformities.