Clinical reports of 31 brazilian case presentations with fibrodysplasia ossificans progressiva

Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease, caused by heterozygous mutation in the type I activin receptor gene on chromosome 2q24 that, due to instability, causes progressive ectopic ossification. The objective of the present study was to evaluate the characteristics of 31 patients with FOP from different regions of Brazil. Some characteristics include current age, flare ups, disease progression, hallux characteristics, diagnosis, ectopic ossification sites, and symptoms of cramps, temporomandibular joint, dental conditions and previous surgeries. O all patients, 51.6% had hallux valgus ,9.7% had hallux phalanx absence, 32.2% had both Hallux valgus and Hallux phalanx, and 6.4% had none. The first flare up was around 5 years, occurring more in neck and back and the age of diagnosis around 9 years. Among the families evaluated, three fathers were affected. Most of the patients presented difficulties in walking and some were wheelchair-bound or bedridden. Some patients have auditory deficit and limitation of mouth opening. More than 50% of patients complained of cramps. Different treatments were performed and 4 patients underwent surgery of hallux valgus and others underwent other surgeries (45%). The majority of the diagnoses were late.