Myositis ossificans progressiva: five generations where the disease was exclusively limited to the maxillofacial region

Fibrodysplasia ossificans progressiva presenting as a painful swelling of the sternocleidomastoid muscle

“…Permanent restriction of the mouth opening due to the maxillofacial involvement is seen in 55% of the cases and occurs around the average age of 17.5 years [8].…”

“…Numerous medical regimens have been prescribed including calcitonin, nonsteroidal anti-inflammatory drugs and antimitotic agents but their efficacy has not been proven [8].…”

Fibrodysplasia ossificans progressiva. An unusual cause of restricted mandibular movement

“…Death may result from complications by restrictive disease of the chest wall due to ankylosis of the spine and rib cage (Kussmail et al , 1998; Shore et al , 2000). Maxillofacial involvement leading to permanent restriction of mandibular opening is seen in approximately 80% of the cases and occurs on an average age of 18 years (Kabala et al , 1989; Debeney‐Bruyerre et al , 1998; Aslan et al , 1999; Chichareon et al , 1999; Herford and Boyne, 2003). Disease flare‐ups can occur spontaneously or can be induced by minor trauma, iatrogenic or not, as seen in the present case.…”

Fibrodysplasia Ossificans Progressiva: A Review with Presentation of a Case with Temporomandibular Extra-Articular Ankylosis

“…[6,10] There are less than 10 multi-generational families worldwide [3,4] and cases have been reported with exclusive compromise of the maxillofacial region. [22] It has an autosomal dominant pattern in 10% of the cases, but most patients (90%) correspond to a spontaneous "de novo" mutation in the gene that codes for the Activin A type I receptor like Activin-Kinase-2 (ACVR1 / ALK2) located on chromosome 2 (2q23-24). The ACVR1 / ALK2 receptor belongs to the family of bone morphogenetic protein (BMP) receptors, members of the superfamily of transforming growth factors beta (TGF-β).…”