Elamin Mohamed, Almutasim Ibrahim Ashraf, Omer Abdalla
Orthopaedics and Traumatology, Galway University Hospitals, Galway, IRL.
Orthopaedics and Traumatology, Omdurman Military Hospital, Khartoum, SDN.
Cureus. 2022 Mar 22;14(3):e23392. doi: 10.7759/cureus.23392. eCollection 2022 Mar.
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.
进行性骨化性纤维发育不良(FOP)是一种罕见疾病,确诊病例不到1000例。它是一种严重致残的遗传性疾病,会影响软组织,其特征是进行性骨外异位骨化和拇趾畸形。FOP的遗传模式为常染色体显性遗传,与种族、性别或地理分布无关。虽然实验室检查结果和影像学研究有助于FOP的诊断,但这种罕见疾病的诊断主要依靠临床症状。最近,FOP与诱导成骨细胞激活的ACVR1/ALK2基因突变有关。我们报告了在两年时间(2014 - 2016年)内的4例进行性骨化性纤维发育不良病例。4例中有3例接受了保守治疗。第一例患者接受了骨条切除手术,术后出现了进行性骨形成和活动受限。几乎在所有情况下,FOP都需要使用非甾体类抗炎药(NSAIDs)并配合温和的物理治疗进行保守治疗。除了麻醉并发症外,手术干预会引发更多的骨形成,从而导致关节反复受限。因此,手术仅应保留用于治疗严重致残的畸形。