defining characteristics
Soft tissue swelling that progressively turns to bone esp at sites of injury (avoid trauma!!); malformed great toe, progressive heterotopic ossification pattern; spares heart/ diaphragm/ extraocular muscles
disease development
Inflammatory swelling of soft tissues that eventually transforms into encasement of bone during first decade of life via endochondral ossification
Missense mutation of ACVR/ALK2 inactivates binding site for inhibitor (FKBP12), causing excessive and constitutive BMP stimulation
potential causes
Excessive BMP stimulation –> increased osteoblast formation
epidemiology
risk factors
labimaging
NO BIOPSY!!!!
conventional treatment
complications
Patients usually die of R heart failure, Pulmonary HTN
Require wheelchair by 3rd decade
