Fibrodisplasia osificante progresiva. El papel del cirujano oral y maxilofacial. Experiencia en 2 casos

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

“…[38] Temporomandibular ankylosis is an important complication in FOP that can trigger eating problems with severe weight loss until death because of starvation. [6,31] Emphasis should be done on preventive oral health measures such as periodic dental check-ups, use of toothpaste with fluoride, antimicrobial rinses, as well as fluoridated water especially during childhood to prevent long-term complications such as periodontal diseases, tooth decay, dental infectious processes, among others, since these complications will require more complex treatments and due to the limitation of the oral opening secondary to the progression of the FOP and to the reduced options of local anesthesia it is necessary to treat these patients under general anesthesia. (Singh et al, 2003) [39], (Nussbaum et al, 2005) [40], (Young et al, 2007) [41], (Nussbaum 2009) [42], (Shimono et al, 2014) [43] An increase in soft tissue volume at the submandibular level must be addressed in a priority manner due to its potential to cause dyspnea and dysphagia that can lead to the death of the patient.…”

“…[8] The dominant autosomal inheritance was first described by Simpson, but it was Eileen M. Shore and Frederick S. Kaplan in 2006 that discovered the gene and the mutation that cause it. [6,9,10] It is a genetic disease characterized by a connective tissue disorder that progressively affects tendons, ligaments, aponeurosis, fasciae and muscles, which undergo a fibrous cell proliferation that progresses to mature bone, is the most catastrophic heterotopic ossification disorder that occurs in humans. [2 -6] Ossification follows a cephalo-caudal, proximal-distal, dorsal-ventral and axio-appendicular direction forming "a second skeleton", which progressively diminishes the patient's abilities, making difficult their basic activities such as walking, hearing, chewing, swallowing, speech and breathing which will result in an early death.…”

“…It has a prevalence of 1 case for every 2,000,000 habitants, it is estimated that there are around 3,500 people with FOP worldwide, but only less than 1,000 cases have been reported, it has no predilection between sex, race or geographic location. [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).…”