DOI: 10.36347/sjmcr.2022.v10i07.035

Pages: 747-750

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant genetic disease. The diagnosis is clinical and is based on two criteria: congenital bone deformities of the hands and feet (in particular a bilateral hallux valgus with a monophalangeal appearance) and ossification of the interstitial connective tissue of the striated muscles (spontaneous or triggered by minimal trauma). This irreversible ectopic osteogenesis evolves in bouts, progressing according to a precise anatomical pattern. The hypothesis of a genetic mutation in the BMP4 signaling pathway, responsible for a dysfunction of the immune system, has been evoked for some years. Recently, a gene involved was identified on chromosome 2: it is ACVR1, one of the BMP receptors. FOP is an example of the difficulty of management, since no curative treatment is effective on the progression of the disease; only preventive and conservative management associated with symptomatic treatment of relapses can be proposed at present.