1. Introduction Fibrodysplasia ossificans progressiva (FOP) is a rare but devastating autosomal dominant genetic disorder characterized by spontaneous or trauma-induced progressive extra-skeletal bone formation, called heterotopic ossification (HO), in skeletal muscles, tendons, and ligaments [1]. HO forms through endochondral ossification, the process that creates most bones during embryonic development [2]. Endochondral ossification occurs through the […]
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease driven by gain-of-function variants in activin receptor-like kinase 2 (ALK2), the most common variant being ALK2R206H . In FOP, ALK2 variants display increased and dysregulated signaling through the bone morphogenetic protein (BMP) pathway resulting in progressive and permanent replacement of skeletal muscle and connective tissues with […]
Introduction Heterotopic ossification (HO) is a disorder characterized by ectopic bone formation at extraskeletal sites, including skeletal muscle and connective tissues. Trauma-induced HO develops as a common post-operative complication after orthopedic surgeries (e.g., hip arthroplasty), blast injuries, deep burns and nervous system injuries (Hwang et al., 2022). In addition to trauma- induced HO, fibrodysplasia ossificans […]
The participation of patients with a diagnosis of classic fibrodysplasia ossificans progressiva (FOP) who have previously undergone surgery is being sought for a study that involves the review of medical records. We are asking for the participation of patients who have the diagnosis of FOP confirmed by sequencing, and have previously undergone surgical excision of HO for […]
